| 8565819 | CV31799 | deletion | SLC26A3, 13-BP DEL | Congenital secretory diarrhea, chloride type [RCV000018245] | pathogenic | | | | Human | | name |
| 8565817 | CV31795 | deletion | SLC26A3, 1-BP DEL, 344T | Congenital secretory diarrhea, chloride type [RCV000018241] | pathogenic | | | | Human | | name |
| 11611263 | CV304702 | single nucleotide variant | NM_000111.3(SLC26A3):c.-40C>T | Congenital secretory diarrhea, chloride type [RCV000392705] | uncertain significance | 7 | 107794549 | 107794549 | Human | 1 | name |
| 28908464 | CV897231 | single nucleotide variant | NM_000111.3(SLC26A3):c.-90A>G | Congenital secretory diarrhea, chloride type [RCV001160116] | uncertain significance | 7 | 107803112 | 107803112 | Human | 1 | name |
| 11582542 | CV301442 | single nucleotide variant | NM_000111.3(SLC26A3):c.*386G>A | Congenital secretory diarrhea, chloride type [RCV000260474] | benign|uncertain significance | 7 | 107765469 | 107765469 | Human | 1 | name |
| 11654483 | CV304686 | single nucleotide variant | NM_000111.3(SLC26A3):c.*205G>C | Congenital secretory diarrhea, chloride type [RCV000318107] | uncertain significance | 7 | 107765650 | 107765650 | Human | 1 | name |
| 11661325 | CV304694 | single nucleotide variant | NM_000111.3(SLC26A3):c.*196T>C | Congenital secretory diarrhea, chloride type [RCV000375058] | uncertain significance | 7 | 107765659 | 107765659 | Human | 1 | name |
| 11650324 | CV309309 | single nucleotide variant | NM_000111.3(SLC26A3):c.*130C>T | Congenital secretory diarrhea, chloride type [RCV000291887] | uncertain significance | 7 | 107765725 | 107765725 | Human | 1 | name |
| 28869798 | CV897214 | single nucleotide variant | NM_000111.3(SLC26A3):c.*227A>G | Congenital secretory diarrhea, chloride type [RCV001163251] | uncertain significance | 7 | 107765628 | 107765628 | Human | 1 | name |
| 28869802 | CV897215 | single nucleotide variant | NM_000111.3(SLC26A3):c.*113T>C | Congenital secretory diarrhea, chloride type [RCV001163252] | likely benign | 7 | 107765742 | 107765742 | Human | 1 | name |
| 28908466 | CV897232 | single nucleotide variant | NM_000111.3(SLC26A3):c.-169C>T | Congenital secretory diarrhea, chloride type [RCV001160117] | uncertain significance | 7 | 107803191 | 107803191 | Human | 1 | name |
| 151816259 | CV1378890 | single nucleotide variant | NM_000111.3(SLC26A3):c.571-7T>A | not provided [RCV001900442] | likely benign|uncertain significance | 7 | 107789695 | 107789695 | Human | | name |
| 151846640 | CV1495257 | single nucleotide variant | NM_000111.3(SLC26A3):c.271+2T>C | not provided [RCV001978369] | likely pathogenic | 7 | 107793740 | 107793740 | Human | | name |
| 151864499 | CV1498765 | single nucleotide variant | NM_000111.3(SLC26A3):c.570+3G>A | not provided [RCV001980548] | uncertain significance | 7 | 107791045 | 107791045 | Human | | name |
| 152170832 | CV1536629 | single nucleotide variant | NM_000111.3(SLC26A3):c.132-9T>C | not provided [RCV002183291] | likely benign | 7 | 107793890 | 107793890 | Human | | name |
| 152085369 | CV1620985 | single nucleotide variant | NM_000111.3(SLC26A3):c.888+7G>C | not provided [RCV002193563] | likely benign | 7 | 107787350 | 107787350 | Human | | name |
| 402477283 | CV2853629 | single nucleotide variant | NM_000111.3(SLC26A3):c.131+8A>C | not provided [RCV003543548] | likely benign | 7 | 107794371 | 107794371 | Human | | name |
| 402481404 | CV2864215 | single nucleotide variant | NM_000111.3(SLC26A3):c.382+1G>A | not provided [RCV003544069] | likely pathogenic | 7 | 107791829 | 107791829 | Human | | name |
| 405170052 | CV2911898 | deletion | NM_000111.3(SLC26A3):c.736-2del | not provided [RCV003563046] | likely pathogenic | 7 | 107787511 | 107787511 | Human | | name |
| 402469735 | CV2931163 | single nucleotide variant | NM_000111.3(SLC26A3):c.570+1G>T | not provided [RCV003570197] | likely pathogenic | 7 | 107791047 | 107791047 | Human | | name |
| 405113756 | CV2939053 | single nucleotide variant | NM_000111.3(SLC26A3):c.736-8A>G | not provided [RCV003666537] | likely benign | 7 | 107787517 | 107787517 | Human | | name |
| 405239355 | CV2983360 | single nucleotide variant | NM_000111.3(SLC26A3):c.889-2A>G | not provided [RCV003683641] | likely pathogenic | 7 | 107786911 | 107786911 | Human | | name |
| 11596019 | CV301453 | single nucleotide variant | NM_000111.3(SLC26A3):c.571-9T>C | Congenital secretory diarrhea, chloride type [RCV000377355]|not provided [RCV002058646] | likely benign|uncertain significance | 7 | 107789697 | 107789697 | Human | 1 | name |
| 11653760 | CV301479 | single nucleotide variant | NM_000111.3(SLC26A3):c.-88-9T>G | Congenital secretory diarrhea, chloride type [RCV000312914] | uncertain significance | 7 | 107794606 | 107794606 | Human | 1 | name |
| 405003192 | CV3015420 | single nucleotide variant | NM_000111.3(SLC26A3):c.383-9G>A | not provided [RCV003693286] | likely benign | 7 | 107791244 | 107791244 | Human | | name |
| 405004607 | CV3016541 | single nucleotide variant | NM_000111.3(SLC26A3):c.383-1G>A | not provided [RCV003693480] | likely pathogenic | 7 | 107791236 | 107791236 | Human | | name |
| 405087966 | CV3024997 | single nucleotide variant | NM_000111.3(SLC26A3):c.972-1G>A | not provided [RCV003699535] | likely pathogenic | 7 | 107783353 | 107783353 | Human | | name |
| 405178828 | CV3027508 | single nucleotide variant | NM_000111.3(SLC26A3):c.571-8C>T | not provided [RCV003705267] | likely benign | 7 | 107789696 | 107789696 | Human | | name |
| 11600146 | CV309346 | single nucleotide variant | NM_000111.3(SLC26A3):c.889-6T>C | Congenital secretory diarrhea, chloride type [RCV000271508]|SLC26A3-related disorder [RCV003970051]|not provided [RCV000958955] | benign|likely benign | 7 | 107786915 | 107786915 | Human | 1 | name , trait , alternate_id |
| 11611269 | CV309353 | single nucleotide variant | NM_000111.3(SLC26A3):c.271+7T>A | Congenital secretory diarrhea, chloride type [RCV000392859]|not provided [RCV000975941] | likely benign|uncertain significance | 7 | 107793735 | 107793735 | Human | 1 | name |
| 11648700 | CV309482 | single nucleotide variant | NM_000111.3(SLC26A3):c.570+8C>T | Congenital secretory diarrhea, chloride type [RCV000283103] | uncertain significance | 7 | 107791040 | 107791040 | Human | 1 | name |
| 405234000 | CV3157986 | single nucleotide variant | NM_000111.3(SLC26A3):c.971+7G>A | not provided [RCV003865742] | likely benign | 7 | 107786820 | 107786820 | Human | | name |
| 8616742 | CV70643 | single nucleotide variant | NM_000111.3(SLC26A3):c.571-1G>T | Congenital secretory diarrhea, chloride type [RCV000049413]|not provided [RCV001853038] | pathogenic|likely pathogenic | 7 | 107789689 | 107789689 | Human | 1 | name |
| 8616743 | CV70644 | single nucleotide variant | NM_000111.3(SLC26A3):c.571-2A>G | Congenital secretory diarrhea, chloride type [RCV000049414]|SLC26A3-related disorder [RCV003964905]|not provided [RCV000998892] | pathogenic|likely pathogenic | 7 | 107789690 | 107789690 | Human | 1 | name , trait , alternate_id |
| 28870122 | CV900301 | single nucleotide variant | NM_000111.3(SLC26A3):c.888+5T>C | Congenital secretory diarrhea, chloride type [RCV001163361] | uncertain significance | 7 | 107787352 | 107787352 | Human | 1 | name |
| 28870119 | CV900302 | single nucleotide variant | NM_000111.3(SLC26A3):c.736-9T>C | Congenital secretory diarrhea, chloride type [RCV001163362]|not provided [RCV002558567] | likely benign|uncertain significance | 7 | 107787518 | 107787518 | Human | 1 | name |
| 127307356 | CV1138303 | single nucleotide variant | NM_000111.3(SLC26A3):c.735+12T>C | not provided [RCV001500440] | likely benign | 7 | 107789512 | 107789512 | Human | | name |
| 150338844 | CV1167403 | single nucleotide variant | NM_000111.3(SLC26A3):c.735+37A>T | not provided [RCV001533786] | benign | 7 | 107789487 | 107789487 | Human | | name |
| 150507088 | CV1211087 | single nucleotide variant | NM_000111.3(SLC26A3):c.272-84A>G | not provided [RCV001596205] | benign | 7 | 107792024 | 107792024 | Human | | name |
| 150433568 | CV1216953 | single nucleotide variant | NM_000111.3(SLC26A3):c.383-32A>G | not provided [RCV001608855] | benign | 7 | 107791267 | 107791267 | Human | | name |
| 150435633 | CV1221696 | single nucleotide variant | NM_000111.3(SLC26A3):c.383-96C>G | not provided [RCV001609384] | benign | 7 | 107791331 | 107791331 | Human | | name |
| 150460101 | CV1231284 | single nucleotide variant | NM_000111.3(SLC26A3):c.132-65A>G | not provided [RCV001640848] | benign | 7 | 107793946 | 107793946 | Human | | name |
| 150469561 | CV1249115 | single nucleotide variant | NM_000111.3(SLC26A3):c.570+80C>A | not provided [RCV001670877] | benign | 7 | 107790968 | 107790968 | Human | | name |
| 150481490 | CV1265641 | single nucleotide variant | NM_000111.3(SLC26A3):c.1312-1G>T | Congenital secretory diarrhea, chloride type [RCV005040335]|not provided [RCV001682636] | pathogenic|likely pathogenic | 7 | 107779764 | 107779764 | Human | 1 | name |
| 150493355 | CV1281851 | single nucleotide variant | NM_000111.3(SLC26A3):c.570+79C>G | not provided [RCV001716989] | benign | 7 | 107790969 | 107790969 | Human | | name |
| 151762661 | CV1356783 | single nucleotide variant | NM_000111.3(SLC26A3):c.2007+5T>C | not provided [RCV001970369] | uncertain significance | 7 | 107773915 | 107773915 | Human | | name |
| 151867622 | CV1493673 | single nucleotide variant | NM_000111.3(SLC26A3):c.1119+5G>C | not provided [RCV001960019] | uncertain significance | 7 | 107783200 | 107783200 | Human | | name |
| 152032241 | CV1548954 | single nucleotide variant | NM_000111.3(SLC26A3):c.272-11T>C | not provided [RCV002086538] | likely benign | 7 | 107791951 | 107791951 | Human | | name |
| 152175897 | CV1580156 | single nucleotide variant | NM_000111.3(SLC26A3):c.271+18T>C | not provided [RCV002164035] | likely benign | 7 | 107793724 | 107793724 | Human | | name |
| 152063152 | CV1594630 | single nucleotide variant | NM_000111.3(SLC26A3):c.1515-7C>T | not provided [RCV002110376] | likely benign | 7 | 107776713 | 107776713 | Human | | name |
| 152066801 | CV1620244 | single nucleotide variant | NM_000111.3(SLC26A3):c.1233+7C>G | not provided [RCV002209455] | likely benign | 7 | 107782973 | 107782973 | Human | | name |
| 152032449 | CV1643091 | single nucleotide variant | NM_000111.3(SLC26A3):c.383-19T>C | not provided [RCV002204972] | likely benign | 7 | 107791254 | 107791254 | Human | | name |
| 152048745 | CV1656921 | single nucleotide variant | NM_000111.3(SLC26A3):c.272-10G>A | not provided [RCV002189136] | likely benign | 7 | 107791950 | 107791950 | Human | | name |
| 152119933 | CV1659336 | single nucleotide variant | NM_000111.3(SLC26A3):c.271+17G>A | not provided [RCV002175435] | likely benign | 7 | 107793725 | 107793725 | Human | | name |
| 152120617 | CV1662043 | deletion | NM_000111.3(SLC26A3):c.271+14del | not provided [RCV002117804] | benign | 7 | 107793728 | 107793728 | Human | | name |
| 152152257 | CV1664452 | single nucleotide variant | NM_000111.3(SLC26A3):c.382+14T>C | not provided [RCV002158367] | likely benign | 7 | 107791816 | 107791816 | Human | | name |
| 155800764 | CV1860255 | single nucleotide variant | NM_000111.3(SLC26A3):c.1514+1G>A | Congenital secretory diarrhea, chloride type [RCV002466896]|not provided [RCV003775492] | pathogenic | 7 | 107778174 | 107778174 | Human | 1 | name |
| 156071654 | CV1959301 | single nucleotide variant | NM_000111.3(SLC26A3):c.131+18G>A | not provided [RCV002569621] | likely benign | 7 | 107794361 | 107794361 | Human | | name |
| 156282686 | CV1964447 | single nucleotide variant | NM_000111.3(SLC26A3):c.1678-5C>T | not provided [RCV002577530] | likely benign | 7 | 107774877 | 107774877 | Human | | name |
| 156065013 | CV1975362 | duplication | NM_000111.3(SLC26A3):c.271+14dup | not provided [RCV002591098] | benign | 7 | 107793727 | 107793728 | Human | | name |
| 156404949 | CV1994125 | single nucleotide variant | NM_000111.3(SLC26A3):c.971+13T>G | not provided [RCV002658181] | likely benign | 7 | 107786814 | 107786814 | Human | | name |
| 156364686 | CV2013884 | single nucleotide variant | NM_000111.3(SLC26A3):c.571-19G>T | not provided [RCV002721102] | likely benign | 7 | 107789707 | 107789707 | Human | | name |
| 156045597 | CV2026577 | single nucleotide variant | NM_000111.3(SLC26A3):c.271+11T>C | not provided [RCV002736338] | likely benign | 7 | 107793731 | 107793731 | Human | | name |
| 156165209 | CV2045121 | single nucleotide variant | NM_000111.3(SLC26A3):c.2063-5T>C | not provided [RCV002741689] | likely benign | 7 | 107767913 | 107767913 | Human | | name |
| 156138853 | CV2048269 | single nucleotide variant | NM_000111.3(SLC26A3):c.570+19A>G | not provided [RCV002800877] | benign | 7 | 107791029 | 107791029 | Human | | name |
| 155943909 | CV2062052 | single nucleotide variant | NM_000111.3(SLC26A3):c.131+20A>G | not provided [RCV002815866] | likely benign | 7 | 107794359 | 107794359 | Human | | name |
| 156071751 | CV2065798 | single nucleotide variant | NM_000111.3(SLC26A3):c.132-17G>T | not provided [RCV002847095] | likely benign | 7 | 107793898 | 107793898 | Human | | name |
| 156369816 | CV2109660 | single nucleotide variant | NM_000111.3(SLC26A3):c.2206-8T>C | not provided [RCV002942236] | benign | 7 | 107767652 | 107767652 | Human | | name |
| 156331128 | CV2171796 | single nucleotide variant | NM_000111.3(SLC26A3):c.1774-9C>T | not provided [RCV003029775] | likely benign | 7 | 107774162 | 107774162 | Human | | name |
| 156006698 | CV2175566 | single nucleotide variant | NM_000111.3(SLC26A3):c.1678-6T>C | not provided [RCV003035029] | likely benign | 7 | 107774878 | 107774878 | Human | | name |
| 405045570 | CV2859714 | single nucleotide variant | NM_000111.3(SLC26A3):c.971+17T>C | not provided [RCV003579312] | likely benign | 7 | 107786810 | 107786810 | Human | | name |
| 402481683 | CV2860465 | duplication | NM_000111.3(SLC26A3):c.972-10dup | not provided [RCV003544098] | likely benign | 7 | 107783361 | 107783362 | Human | | name |
| 402520038 | CV2870945 | single nucleotide variant | NM_000111.3(SLC26A3):c.570+10T>C | not provided [RCV003547616] | likely benign | 7 | 107791038 | 107791038 | Human | | name |
| 405206647 | CV2873975 | single nucleotide variant | NM_000111.3(SLC26A3):c.1120-1G>A | not provided [RCV003552027] | likely pathogenic | 7 | 107783094 | 107783094 | Human | | name |
| 405064997 | CV2878895 | single nucleotide variant | NM_000111.3(SLC26A3):c.736-12T>C | not provided [RCV003548099] | likely benign | 7 | 107787521 | 107787521 | Human | | name |
| 405054997 | CV2890175 | single nucleotide variant | NM_000111.3(SLC26A3):c.1234-4A>G | not provided [RCV003580019] | likely benign | 7 | 107782878 | 107782878 | Human | | name |
| 405227043 | CV2892271 | single nucleotide variant | NM_000111.3(SLC26A3):c.1585-8C>A | not provided [RCV003554698] | likely benign | 7 | 107776552 | 107776552 | Human | | name |
| 405218146 | CV2897308 | single nucleotide variant | NM_000111.3(SLC26A3):c.889-10A>G | not provided [RCV003567933] | likely benign | 7 | 107786919 | 107786919 | Human | | name |
| 405132933 | CV2905236 | single nucleotide variant | NM_000111.3(SLC26A3):c.1408-6T>C | not provided [RCV003560033] | likely benign | 7 | 107778287 | 107778287 | Human | | name |
| 402481874 | CV2911078 | deletion | NM_000111.3(SLC26A3):c.971+18del | not provided [RCV003572084] | likely benign | 7 | 107786809 | 107786809 | Human | | name |
| 405187299 | CV2917663 | single nucleotide variant | NM_000111.3(SLC26A3):c.272-12G>T | not provided [RCV003564554] | likely benign | 7 | 107791952 | 107791952 | Human | | name |
| 405033566 | CV2922585 | deletion | NM_000111.3(SLC26A3):c.570+14del | not provided [RCV003578454] | likely benign | 7 | 107791034 | 107791034 | Human | | name |
| 405035843 | CV2923603 | single nucleotide variant | NM_000111.3(SLC26A3):c.2008-9T>G | not provided [RCV003578695] | likely benign | 7 | 107772117 | 107772117 | Human | | name |
| 402503155 | CV2932563 | single nucleotide variant | NM_000111.3(SLC26A3):c.271+20T>C | not provided [RCV003574132] | likely benign | 7 | 107793722 | 107793722 | Human | | name |
| 405065455 | CV2937117 | single nucleotide variant | NM_000111.3(SLC26A3):c.971+15G>A | not provided [RCV003663602] | likely benign | 7 | 107786812 | 107786812 | Human | | name |
| 402482229 | CV2940725 | single nucleotide variant | NM_000111.3(SLC26A3):c.383-12A>G | not provided [RCV003659667] | likely benign | 7 | 107791247 | 107791247 | Human | | name |
| 402497148 | CV2942862 | single nucleotide variant | NM_000111.3(SLC26A3):c.1311+7C>G | not provided [RCV003661193] | likely benign | 7 | 107782790 | 107782790 | Human | | name |
| 402485533 | CV2944920 | single nucleotide variant | NM_000111.3(SLC26A3):c.2272-4C>T | not provided [RCV003659964] | likely benign | 7 | 107765882 | 107765882 | Human | | name |
| 405094480 | CV2947319 | single nucleotide variant | NM_000111.3(SLC26A3):c.1312-4A>G | not provided [RCV003665528] | likely benign | 7 | 107779767 | 107779767 | Human | | name |
| 405160791 | CV2955005 | single nucleotide variant | NM_000111.3(SLC26A3):c.2063-4T>C | not provided [RCV003670617] | likely benign | 7 | 107767912 | 107767912 | Human | | name |
| 405181267 | CV2956297 | single nucleotide variant | NM_000111.3(SLC26A3):c.1233+8A>T | not provided [RCV003676242] | likely benign | 7 | 107782972 | 107782972 | Human | | name |
| 405150367 | CV2959560 | single nucleotide variant | NM_000111.3(SLC26A3):c.571-20G>T | not provided [RCV003673876] | likely benign | 7 | 107789708 | 107789708 | Human | | name |
| 405221867 | CV2966264 | single nucleotide variant | NM_000111.3(SLC26A3):c.2007+8C>T | not provided [RCV003680789] | likely benign | 7 | 107773912 | 107773912 | Human | | name |
| 405215622 | CV2967779 | single nucleotide variant | NM_000111.3(SLC26A3):c.272-16G>A | not provided [RCV003679915] | likely benign | 7 | 107791956 | 107791956 | Human | | name |
| 405222281 | CV2976251 | single nucleotide variant | NM_000111.3(SLC26A3):c.1120-6T>C | not provided [RCV003680867] | likely benign | 7 | 107783099 | 107783099 | Human | | name |
| 405010770 | CV2987013 | single nucleotide variant | NM_000111.3(SLC26A3):c.1585-5T>A | not provided [RCV003693888] | likely benign | 7 | 107776549 | 107776549 | Human | | name |
| 402497794 | CV2988936 | deletion | NM_000111.3(SLC26A3):c.2008-6del | not provided [RCV003714430] | benign | 7 | 107772114 | 107772114 | Human | | name |
| 404996114 | CV2992495 | single nucleotide variant | NM_000111.3(SLC26A3):c.889-11C>A | not provided [RCV003692722] | likely benign | 7 | 107786920 | 107786920 | Human | | name |
| 405117499 | CV2992861 | single nucleotide variant | NM_000111.3(SLC26A3):c.735+17C>T | not provided [RCV003723444] | likely benign | 7 | 107789507 | 107789507 | Human | | name |
| 405206851 | CV2994202 | single nucleotide variant | NM_000111.3(SLC26A3):c.1233+9A>T | not provided [RCV003678781] | likely benign | 7 | 107782971 | 107782971 | Human | | name |
| 405023148 | CV3002683 | single nucleotide variant | NM_000111.3(SLC26A3):c.2007+2T>G | not provided [RCV003694914] | likely pathogenic | 7 | 107773918 | 107773918 | Human | | name |
| 405249161 | CV3003792 | single nucleotide variant | NM_000111.3(SLC26A3):c.271+14T>C | not provided [RCV003721187] | likely benign | 7 | 107793728 | 107793728 | Human | | name |
| 404981592 | CV3006342 | single nucleotide variant | NM_000111.3(SLC26A3):c.1584+9G>A | not provided [RCV003691246] | likely benign | 7 | 107776628 | 107776628 | Human | | name |
| 405035889 | CV3006846 | single nucleotide variant | NM_000111.3(SLC26A3):c.971+19A>G | not provided [RCV003695855] | likely benign | 7 | 107786808 | 107786808 | Human | | name |
| 402521379 | CV3011182 | single nucleotide variant | NM_000111.3(SLC26A3):c.1234-1G>A | not provided [RCV003716457] | likely pathogenic | 7 | 107782875 | 107782875 | Human | | name |
| 405041815 | CV3013678 | single nucleotide variant | NM_000111.3(SLC26A3):c.1677+8T>G | not provided [RCV003696251] | likely benign | 7 | 107776444 | 107776444 | Human | | name |
| 405127437 | CV3013817 | single nucleotide variant | NM_000111.3(SLC26A3):c.1408-5C>T | not provided [RCV003701349] | likely benign | 7 | 107778286 | 107778286 | Human | | name |
| 405028479 | CV3015531 | single nucleotide variant | NM_000111.3(SLC26A3):c.889-16A>C | not provided [RCV003695340] | likely benign | 7 | 107786925 | 107786925 | Human | | name |
| 405164278 | CV3018091 | single nucleotide variant | NM_000111.3(SLC26A3):c.2062+8G>A | not provided [RCV003704159] | likely benign | 7 | 107772046 | 107772046 | Human | | name |
| 405125767 | CV3021212 | single nucleotide variant | NM_000111.3(SLC26A3):c.1234-8C>T | not provided [RCV003701136] | likely benign | 7 | 107782882 | 107782882 | Human | | name |
| 405177600 | CV3023775 | single nucleotide variant | NM_000111.3(SLC26A3):c.383-16A>G | not provided [RCV003705127] | likely benign | 7 | 107791251 | 107791251 | Human | | name |
| 405142513 | CV3026418 | single nucleotide variant | NM_000111.3(SLC26A3):c.735+18C>T | not provided [RCV003702570] | likely benign | 7 | 107789506 | 107789506 | Human | | name |
| 405198221 | CV3032642 | single nucleotide variant | NM_000111.3(SLC26A3):c.888+16C>G | not provided [RCV003707104] | likely benign | 7 | 107787341 | 107787341 | Human | | name |
| 405204110 | CV3033341 | single nucleotide variant | NM_000111.3(SLC26A3):c.1585-8C>T | not provided [RCV003707721] | likely benign | 7 | 107776552 | 107776552 | Human | | name |
| 405209717 | CV3037346 | single nucleotide variant | NM_000111.3(SLC26A3):c.2206-9T>C | not provided [RCV003708415] | likely benign | 7 | 107767653 | 107767653 | Human | | name |
| 402509530 | CV3042301 | single nucleotide variant | NM_000111.3(SLC26A3):c.888+17A>G | not provided [RCV003715478] | likely benign | 7 | 107787340 | 107787340 | Human | | name |
| 405144742 | CV3056207 | single nucleotide variant | NM_000111.3(SLC26A3):c.2007+9T>C | not provided [RCV003725888] | likely benign | 7 | 107773911 | 107773911 | Human | | name |
| 405149240 | CV3067474 | single nucleotide variant | NM_000111.3(SLC26A3):c.1585-9G>A | not provided [RCV003726213] | likely benign | 7 | 107776553 | 107776553 | Human | | name |
| 11607722 | CV309467 | deletion | NM_000111.3(SLC26A3):c.2272-3del | Congenital secretory diarrhea, chloride type [RCV000346787]|not provided [RCV002058643] | likely benign|uncertain significance | 7 | 107765881 | 107765881 | Human | 1 | name |
| 405133932 | CV3115263 | single nucleotide variant | NM_000111.3(SLC26A3):c.570+17G>A | not provided [RCV003816108] | likely benign | 7 | 107791031 | 107791031 | Human | | name |
| 405121807 | CV3116640 | duplication | NM_000111.3(SLC26A3):c.2063-9dup | not provided [RCV003814942] | benign | 7 | 107767916 | 107767917 | Human | | name |
| 405147862 | CV3126566 | single nucleotide variant | NM_000111.3(SLC26A3):c.971+14C>T | not provided [RCV003817293] | likely benign | 7 | 107786813 | 107786813 | Human | | name |
| 405199850 | CV3128797 | single nucleotide variant | NM_000111.3(SLC26A3):c.271+19A>G | not provided [RCV003821840] | likely benign | 7 | 107793723 | 107793723 | Human | | name |
| 405019631 | CV3129087 | single nucleotide variant | NM_000111.3(SLC26A3):c.271+14T>A | not provided [RCV003829650] | likely benign | 7 | 107793728 | 107793728 | Human | | name |
| 405141776 | CV3131209 | single nucleotide variant | NM_000111.3(SLC26A3):c.1774-4G>A | not provided [RCV003839249] | likely benign | 7 | 107774157 | 107774157 | Human | | name |
| 405052254 | CV3138286 | single nucleotide variant | NM_000111.3(SLC26A3):c.735+18C>G | not provided [RCV003832130] | likely benign | 7 | 107789506 | 107789506 | Human | | name |
| 405021375 | CV3139185 | single nucleotide variant | NM_000111.3(SLC26A3):c.971+20T>C | not provided [RCV003829827] | likely benign | 7 | 107786807 | 107786807 | Human | | name |
| 405021764 | CV3139218 | single nucleotide variant | NM_000111.3(SLC26A3):c.2063-9T>C | not provided [RCV003829860] | likely benign | 7 | 107767917 | 107767917 | Human | | name |
| 405180770 | CV3147401 | single nucleotide variant | NM_000111.3(SLC26A3):c.736-10A>G | not provided [RCV003842303] | likely benign | 7 | 107787519 | 107787519 | Human | | name |
| 405187993 | CV3149166 | single nucleotide variant | NM_000111.3(SLC26A3):c.736-18T>C | not provided [RCV003843092] | likely benign | 7 | 107787527 | 107787527 | Human | | name |
| 405162999 | CV3153167 | single nucleotide variant | NM_000111.3(SLC26A3):c.2206-2A>G | not provided [RCV003840902] | likely pathogenic | 7 | 107767646 | 107767646 | Human | | name |
| 405046158 | CV3154477 | single nucleotide variant | NM_000111.3(SLC26A3):c.570+16T>A | not provided [RCV003849153] | likely benign | 7 | 107791032 | 107791032 | Human | | name |
| 405144887 | CV3155746 | single nucleotide variant | NM_000111.3(SLC26A3):c.971+10T>C | not provided [RCV003855788] | likely benign | 7 | 107786817 | 107786817 | Human | | name |
| 405247370 | CV3158677 | single nucleotide variant | NM_000111.3(SLC26A3):c.382+16A>T | not provided [RCV003869019] | likely benign | 7 | 107791814 | 107791814 | Human | | name |
| 405238006 | CV3165429 | single nucleotide variant | NM_000111.3(SLC26A3):c.1312-5C>T | not provided [RCV003866631] | likely benign | 7 | 107779768 | 107779768 | Human | | name |
| 405194602 | CV3167615 | single nucleotide variant | NM_000111.3(SLC26A3):c.889-20G>C | not provided [RCV003860021] | likely benign | 7 | 107786929 | 107786929 | Human | | name |
| 402524794 | CV3175869 | single nucleotide variant | NM_000111.3(SLC26A3):c.972-19T>G | not provided [RCV003879969] | likely benign | 7 | 107783371 | 107783371 | Human | | name |
| 402502671 | CV3181114 | single nucleotide variant | NM_000111.3(SLC26A3):c.1514+2T>C | not provided [RCV003878131] | pathogenic | 7 | 107778173 | 107778173 | Human | | name |
| 405268835 | CV3201112 | single nucleotide variant | NM_000111.3(SLC26A3):c.1677+1G>A | SLC26A3-related disorder [RCV003899220]|not provided [RCV005101524] | pathogenic|likely pathogenic | 7 | 107776451 | 107776451 | Human | 1 | name , trait , alternate_id |
| 597701260 | CV3718758 | single nucleotide variant | NM_000111.3(SLC26A3):c.1120-2A>G | Congenital secretory diarrhea, chloride type [RCV005033532] | likely pathogenic | 7 | 107783095 | 107783095 | Human | 1 | name |
| 597870291 | CV3768152 | single nucleotide variant | NM_000111.3(SLC26A3):c.735+11C>G | not provided [RCV005122531] | likely benign | 7 | 107789513 | 107789513 | Human | | name |
| 597941418 | CV3769180 | single nucleotide variant | NM_000111.3(SLC26A3):c.2272-6T>C | not provided [RCV005118675] | likely benign | 7 | 107765884 | 107765884 | Human | | name |
| 597924667 | CV3772597 | single nucleotide variant | NM_000111.3(SLC26A3):c.383-17C>T | not provided [RCV005115747] | likely benign | 7 | 107791252 | 107791252 | Human | | name |
| 597877446 | CV3776005 | single nucleotide variant | NM_000111.3(SLC26A3):c.889-20G>A | not provided [RCV005123532] | likely benign | 7 | 107786929 | 107786929 | Human | | name |
| 597879052 | CV3813772 | single nucleotide variant | NM_000111.3(SLC26A3):c.571-20G>A | not provided [RCV005149514] | likely benign | 7 | 107789708 | 107789708 | Human | | name |
| 597969525 | CV3821541 | single nucleotide variant | NM_000111.3(SLC26A3):c.1585-7C>T | not provided [RCV005166183] | likely benign | 7 | 107776551 | 107776551 | Human | | name |
| 597964060 | CV3830377 | single nucleotide variant | NM_000111.3(SLC26A3):c.272-18C>T | not provided [RCV005164517] | likely benign | 7 | 107791958 | 107791958 | Human | | name |
| 8616705 | CV70606 | single nucleotide variant | NM_000111.3(SLC26A3):c.1312-1G>A | Congenital secretory diarrhea, chloride type [RCV000049376] | likely pathogenic | 7 | 107779764 | 107779764 | Human | 1 | name |
| 8616711 | CV70612 | single nucleotide variant | NM_000111.3(SLC26A3):c.1408-1G>A | Congenital secretory diarrhea, chloride type [RCV000049382] | likely pathogenic | 7 | 107778282 | 107778282 | Human | 1 | name |
| 8616714 | CV70615 | deletion | NM_000111.3(SLC26A3):c.1515-2del | Congenital secretory diarrhea, chloride type [RCV000049385] | likely pathogenic | 7 | 107776708 | 107776708 | Human | 1 | name |
| 8616727 | CV70628 | single nucleotide variant | NM_000111.3(SLC26A3):c.2063-1G>T | Congenital secretory diarrhea, chloride type [RCV000049398]|not provided [RCV001853037] | pathogenic|likely pathogenic | 7 | 107767909 | 107767909 | Human | 1 | name |
| 8616731 | CV70632 | single nucleotide variant | NM_000111.3(SLC26A3):c.2205+3A>G | Congenital secretory diarrhea, chloride type [RCV000049402] | likely pathogenic | 7 | 107767763 | 107767763 | Human | 1 | name |
| 28867398 | CV900299 | single nucleotide variant | NM_000111.3(SLC26A3):c.1234-9T>A | Congenital secretory diarrhea, chloride type [RCV001161861]|SLC26A3-related disorder [RCV003918747]|not provided [RCV002071006] | likely benign|uncertain significance | 7 | 107782883 | 107782883 | Human | 1 | name , trait , alternate_id |
| 28867402 | CV900300 | single nucleotide variant | NM_000111.3(SLC26A3):c.972-14A>C | Congenital secretory diarrhea, chloride type [RCV001161863]|not provided [RCV001520262] | benign|likely benign | 7 | 107783366 | 107783366 | Human | 1 | name |
| 28908462 | CV900303 | single nucleotide variant | NM_000111.3(SLC26A3):c.-89+12A>G | Congenital secretory diarrhea, chloride type [RCV001160115] | uncertain significance | 7 | 107803099 | 107803099 | Human | 1 | name |
| 127281109 | CV1095840 | single nucleotide variant | NM_000111.3(SLC26A3):c.1311+20G>A | not provided [RCV001446897] | likely benign | 7 | 107782777 | 107782777 | Human | | name |
| 8649058 | CV116877 | single nucleotide variant | NM_000111.2(SLC26A3):c.736-572G>A | Lung cancer [RCV000097400] | uncertain significance | 7 | 107788081 | 107788081 | Human | | name |
| 8649059 | CV116878 | single nucleotide variant | NM_000111.2(SLC26A3):c.736-579T>A | Lung cancer [RCV000097401] | uncertain significance | 7 | 107788088 | 107788088 | Human | | name |
| 150333338 | CV1171649 | duplication | NM_000111.3(SLC26A3):c.971+199dup | not provided [RCV001539444] | benign | 7 | 107786613 | 107786614 | Human | | name |
| 150423966 | CV1183911 | single nucleotide variant | NM_000111.3(SLC26A3):c.971+145C>T | not provided [RCV001556028] | likely benign | 7 | 107786682 | 107786682 | Human | | name |
| 150420833 | CV1193865 | single nucleotide variant | NM_000111.3(SLC26A3):c.1408-56G>A | not provided [RCV001570291] | likely benign | 7 | 107778337 | 107778337 | Human | | name |
| 150509100 | CV1214214 | single nucleotide variant | NM_000111.3(SLC26A3):c.735+218C>T | not provided [RCV001596735] | benign | 7 | 107789306 | 107789306 | Human | | name |
| 150444860 | CV1215395 | single nucleotide variant | NM_000111.3(SLC26A3):c.-88-145G>A | not provided [RCV001610988] | benign | 7 | 107794742 | 107794742 | Human | | name |
| 150437415 | CV1220717 | single nucleotide variant | NM_000111.3(SLC26A3):c.271+235A>G | not provided [RCV001609702] | benign | 7 | 107793507 | 107793507 | Human | | name |
| 150493339 | CV1225646 | single nucleotide variant | NM_000111.3(SLC26A3):c.570+206T>C | not provided [RCV001619162] | benign | 7 | 107790842 | 107790842 | Human | | name |
| 150476323 | CV1251843 | deletion | NM_000111.3(SLC26A3):c.971+213del | not provided [RCV001672042] | benign | 7 | 107786614 | 107786614 | Human | | name |
| 150468886 | CV1259565 | single nucleotide variant | NM_000111.3(SLC26A3):c.2007+51A>C | not provided [RCV001683865] | benign | 7 | 107773869 | 107773869 | Human | | name |
| 150455729 | CV1259908 | single nucleotide variant | NM_000111.3(SLC26A3):c.972-110A>G | not provided [RCV001681387] | benign | 7 | 107783462 | 107783462 | Human | | name |
| 150493067 | CV1267070 | single nucleotide variant | NM_000111.3(SLC26A3):c.271+272C>T | not provided [RCV001688097] | benign | 7 | 107793470 | 107793470 | Human | | name |
| 150491391 | CV1267769 | single nucleotide variant | NM_000111.3(SLC26A3):c.571-255C>A | not provided [RCV001687794] | benign | 7 | 107789943 | 107789943 | Human | | name |
| 150469871 | CV1268169 | duplication | NM_000111.3(SLC26A3):c.1677+41dup | not provided [RCV001695033] | benign | 7 | 107776410 | 107776411 | Human | | name |
| 150483171 | CV1280150 | single nucleotide variant | NM_000111.3(SLC26A3):c.971+176A>C | not provided [RCV001715143] | benign | 7 | 107786651 | 107786651 | Human | | name |
| 150531487 | CV1291234 | single nucleotide variant | NM_000111.3(SLC26A3):c.-88-205A>G | not provided [RCV001733093] | likely benign | 7 | 107794802 | 107794802 | Human | | name |
| 152142867 | CV1538308 | single nucleotide variant | NM_000111.3(SLC26A3):c.1408-20G>C | not provided [RCV002219605] | likely benign | 7 | 107778301 | 107778301 | Human | | name |
| 152059083 | CV1540420 | single nucleotide variant | NM_000111.3(SLC26A3):c.1584+12T>C | not provided [RCV002109893] | likely benign | 7 | 107776625 | 107776625 | Human | | name |
| 152080942 | CV1546640 | single nucleotide variant | NM_000111.3(SLC26A3):c.1119+12A>G | not provided [RCV002130806] | likely benign | 7 | 107783193 | 107783193 | Human | | name |
| 152143332 | CV1556943 | single nucleotide variant | NM_000111.3(SLC26A3):c.1678-18C>T | not provided [RCV002200864] | likely benign | 7 | 107774890 | 107774890 | Human | | name |
| 152137540 | CV1580431 | single nucleotide variant | NM_000111.3(SLC26A3):c.1408-14C>A | not provided [RCV002156329] | likely benign | 7 | 107778295 | 107778295 | Human | | name |
| 152136136 | CV1595090 | single nucleotide variant | NM_000111.3(SLC26A3):c.2008-20T>C | not provided [RCV002199966] | likely benign | 7 | 107772128 | 107772128 | Human | | name |
| 152143156 | CV1596659 | single nucleotide variant | NM_000111.3(SLC26A3):c.1774-12C>T | not provided [RCV002157034] | likely benign | 7 | 107774165 | 107774165 | Human | | name |
| 152058919 | CV1597340 | single nucleotide variant | NM_000111.3(SLC26A3):c.1120-19A>G | not provided [RCV002128112] | likely benign | 7 | 107783112 | 107783112 | Human | | name |
| 152059413 | CV1597603 | single nucleotide variant | NM_000111.3(SLC26A3):c.1119+20T>G | not provided [RCV002128163] | likely benign | 7 | 107783185 | 107783185 | Human | | name |
| 152064405 | CV1606845 | single nucleotide variant | NM_000111.3(SLC26A3):c.1585-16C>G | not provided [RCV002209117] | likely benign | 7 | 107776560 | 107776560 | Human | | name |
| 152050627 | CV1606952 | single nucleotide variant | NM_000111.3(SLC26A3):c.1120-20C>T | not provided [RCV002108922] | likely benign | 7 | 107783113 | 107783113 | Human | | name |
| 152036590 | CV1609856 | single nucleotide variant | NM_000111.3(SLC26A3):c.1311+11C>A | not provided [RCV002165045] | likely benign | 7 | 107782786 | 107782786 | Human | | name |
| 152064259 | CV1612245 | single nucleotide variant | NM_000111.3(SLC26A3):c.1312-12T>G | not provided [RCV002128748] | likely benign | 7 | 107779775 | 107779775 | Human | | name |
| 152080033 | CV1612629 | single nucleotide variant | NM_000111.3(SLC26A3):c.1408-20G>A | not provided [RCV002170418] | likely benign | 7 | 107778301 | 107778301 | Human | | name |
| 152168988 | CV1614027 | single nucleotide variant | NM_000111.3(SLC26A3):c.1677+16A>T | not provided [RCV002161298] | likely benign | 7 | 107776436 | 107776436 | Human | | name |
| 152105390 | CV1622888 | single nucleotide variant | NM_000111.3(SLC26A3):c.1234-16T>C | not provided [RCV002214736] | likely benign | 7 | 107782890 | 107782890 | Human | | name |
| 152139373 | CV1624965 | single nucleotide variant | NM_000111.3(SLC26A3):c.1677+13G>A | not provided [RCV002219172] | likely benign | 7 | 107776439 | 107776439 | Human | | name |
| 152152622 | CV1631126 | single nucleotide variant | NM_000111.3(SLC26A3):c.1120-16C>T | not provided [RCV002139751] | likely benign | 7 | 107783109 | 107783109 | Human | | name |
| 155268229 | CV1705304 | single nucleotide variant | NM_000111.3(SLC26A3):c.2063-21T>G | not provided [RCV002285909] | likely benign | 7 | 107767929 | 107767929 | Human | | name |
| 156245556 | CV1992749 | single nucleotide variant | NM_000111.3(SLC26A3):c.2008-16C>A | not provided [RCV002627281] | likely benign | 7 | 107772124 | 107772124 | Human | | name |
| 156088702 | CV1994190 | single nucleotide variant | NM_000111.3(SLC26A3):c.1514+12A>T | not provided [RCV002639141] | likely benign | 7 | 107778163 | 107778163 | Human | | name |
| 156089506 | CV2016262 | single nucleotide variant | NM_000111.3(SLC26A3):c.1585-15T>C | not provided [RCV002706261] | likely benign | 7 | 107776559 | 107776559 | Human | | name |
| 156018057 | CV2019179 | single nucleotide variant | NM_000111.3(SLC26A3):c.1678-13A>G | not provided [RCV002690863] | uncertain significance | 7 | 107774885 | 107774885 | Human | | name |
| 156270468 | CV2055948 | single nucleotide variant | NM_000111.3(SLC26A3):c.1774-10T>C | not provided [RCV002806643] | likely benign | 7 | 107774163 | 107774163 | Human | | name |
| 156161036 | CV2074251 | single nucleotide variant | NM_000111.3(SLC26A3):c.2272-19A>G | not provided [RCV002851211] | likely benign | 7 | 107765897 | 107765897 | Human | | name |
| 156113572 | CV2154344 | single nucleotide variant | NM_000111.3(SLC26A3):c.1234-17T>C | not provided [RCV003021512] | likely benign | 7 | 107782891 | 107782891 | Human | | name |
| 405171814 | CV2854284 | single nucleotide variant | NM_000111.3(SLC26A3):c.1119+20T>A | not provided [RCV003542098] | likely benign | 7 | 107783185 | 107783185 | Human | | name |
| 402516548 | CV2856680 | single nucleotide variant | NM_000111.3(SLC26A3):c.2206-11C>G | not provided [RCV003575460] | likely benign | 7 | 107767655 | 107767655 | Human | | name |
| 405169225 | CV2857758 | single nucleotide variant | NM_000111.3(SLC26A3):c.1233+17G>C | not provided [RCV003541913] | likely benign | 7 | 107782963 | 107782963 | Human | | name |
| 405083848 | CV2865012 | deletion | NM_000111.3(SLC26A3):c.1233+13del | not provided [RCV003549370] | likely benign | 7 | 107782967 | 107782967 | Human | | name |
| 405096288 | CV2874942 | single nucleotide variant | NM_000111.3(SLC26A3):c.1677+20A>T | not provided [RCV003550244] | likely benign | 7 | 107776432 | 107776432 | Human | | name |
| 405115672 | CV2896795 | single nucleotide variant | NM_000111.3(SLC26A3):c.2271+19T>C | not provided [RCV003558356] | likely benign | 7 | 107767560 | 107767560 | Human | | name |
| 405170636 | CV2911864 | single nucleotide variant | NM_000111.3(SLC26A3):c.1584+14A>C | not provided [RCV003563031] | likely benign | 7 | 107776623 | 107776623 | Human | | name |
| 405205228 | CV2912576 | single nucleotide variant | NM_000111.3(SLC26A3):c.1514+10C>G | not provided [RCV003566348] | likely benign | 7 | 107778165 | 107778165 | Human | | name |
| 405007549 | CV2929547 | single nucleotide variant | NM_000111.3(SLC26A3):c.2062+12T>C | not provided [RCV003576353] | likely benign | 7 | 107772042 | 107772042 | Human | | name |
| 405087803 | CV2943342 | single nucleotide variant | NM_000111.3(SLC26A3):c.1312-14T>C | not provided [RCV003665073] | likely benign | 7 | 107779777 | 107779777 | Human | | name |
| 402492407 | CV2945714 | single nucleotide variant | NM_000111.3(SLC26A3):c.2206-15T>C | not provided [RCV003660605] | likely benign | 7 | 107767659 | 107767659 | Human | | name |
| 405148337 | CV2960135 | single nucleotide variant | NM_000111.3(SLC26A3):c.1774-11C>T | not provided [RCV003669833] | likely benign | 7 | 107774164 | 107774164 | Human | | name |
| 405164297 | CV2960514 | single nucleotide variant | NM_000111.3(SLC26A3):c.1407+11G>A | not provided [RCV003674846] | likely benign | 7 | 107779657 | 107779657 | Human | | name |
| 405211052 | CV2966790 | single nucleotide variant | NM_000111.3(SLC26A3):c.2271+14A>G | not provided [RCV003679341] | likely benign | 7 | 107767565 | 107767565 | Human | | name |
| 405217510 | CV2972216 | single nucleotide variant | NM_000111.3(SLC26A3):c.2008-16C>T | not provided [RCV003680156] | likely benign | 7 | 107772124 | 107772124 | Human | | name |
| 405198574 | CV2973154 | deletion | NM_000111.3(SLC26A3):c.1119+13del | not provided [RCV003677949] | likely benign | 7 | 107783192 | 107783192 | Human | | name |
| 405233995 | CV2975363 | single nucleotide variant | NM_000111.3(SLC26A3):c.2205+12T>C | not provided [RCV003682636] | likely benign | 7 | 107767754 | 107767754 | Human | | name |
| 405215442 | CV2981500 | single nucleotide variant | NM_000111.3(SLC26A3):c.1120-18T>C | not provided [RCV003709171] | likely benign | 7 | 107783111 | 107783111 | Human | | name |
| 404984509 | CV2989726 | single nucleotide variant | NM_000111.3(SLC26A3):c.2271+17G>C | not provided [RCV003691553] | likely benign | 7 | 107767562 | 107767562 | Human | | name |
| 405205372 | CV2990597 | single nucleotide variant | NM_000111.3(SLC26A3):c.2205+11T>C | not provided [RCV003678580] | likely benign | 7 | 107767755 | 107767755 | Human | | name |
| 402510241 | CV2994613 | single nucleotide variant | NM_000111.3(SLC26A3):c.1407+16A>C | not provided [RCV003689402] | likely benign | 7 | 107779652 | 107779652 | Human | | name |
| 402486283 | CV2998836 | single nucleotide variant | NM_000111.3(SLC26A3):c.1677+13G>C | not provided [RCV003687013] | likely benign | 7 | 107776439 | 107776439 | Human | | name |
| 402493752 | CV3008502 | single nucleotide variant | NM_000111.3(SLC26A3):c.1773+11T>C | not provided [RCV003687743] | likely benign | 7 | 107774766 | 107774766 | Human | | name |
| 402494876 | CV3008540 | single nucleotide variant | NM_000111.3(SLC26A3):c.1678-17A>T | not provided [RCV003687763] | likely benign | 7 | 107774889 | 107774889 | Human | | name |
| 404998559 | CV3008887 | duplication | NM_000111.3(SLC26A3):c.2062+18dup | not provided [RCV003692950] | benign | 7 | 107772035 | 107772036 | Human | | name |
| 405033038 | CV3009050 | single nucleotide variant | NM_000111.3(SLC26A3):c.1515-20T>C | not provided [RCV003695630] | likely benign | 7 | 107776726 | 107776726 | Human | | name |
| 405038486 | CV3013355 | single nucleotide variant | NM_000111.3(SLC26A3):c.1515-17T>C | not provided [RCV003696087] | likely benign | 7 | 107776723 | 107776723 | Human | | name |
| 11635574 | CV301449 | duplication | NM_000111.3(SLC26A3):c.1234-17dup | Congenital secretory diarrhea, chloride type [RCV000369394]|not provided [RCV001516405] | benign|likely benign | 7 | 107782884 | 107782885 | Human | 1 | name |
| 405114948 | CV3019267 | single nucleotide variant | NM_000111.3(SLC26A3):c.1120-19A>T | not provided [RCV003700128] | likely benign | 7 | 107783112 | 107783112 | Human | | name |
| 405060493 | CV3019942 | deletion | NM_000111.3(SLC26A3):c.2008-19del | not provided [RCV003697589] | likely benign | 7 | 107772127 | 107772127 | Human | | name |
| 405132191 | CV3021828 | single nucleotide variant | NM_000111.3(SLC26A3):c.1119+19C>T | not provided [RCV003701733] | likely benign | 7 | 107783186 | 107783186 | Human | | name |
| 405070775 | CV3031090 | single nucleotide variant | NM_000111.3(SLC26A3):c.2008-18T>C | not provided [RCV003698239] | likely benign | 7 | 107772126 | 107772126 | Human | | name |
| 402486280 | CV3033864 | single nucleotide variant | NM_000111.3(SLC26A3):c.1311+10T>C | not provided [RCV003713277] | likely benign | 7 | 107782787 | 107782787 | Human | | name |
| 405218660 | CV3037919 | single nucleotide variant | NM_000111.3(SLC26A3):c.2206-20T>C | not provided [RCV003709524] | likely benign | 7 | 107767664 | 107767664 | Human | | name |
| 402499527 | CV3038281 | single nucleotide variant | NM_000111.3(SLC26A3):c.1515-16G>A | not provided [RCV003714529] | likely benign | 7 | 107776722 | 107776722 | Human | | name |
| 405227686 | CV3039617 | single nucleotide variant | NM_000111.3(SLC26A3):c.1407+15T>C | not provided [RCV003710924] | likely benign | 7 | 107779653 | 107779653 | Human | | name |
| 402482525 | CV3041675 | single nucleotide variant | NM_000111.3(SLC26A3):c.1119+16A>G | not provided [RCV003712930] | likely benign | 7 | 107783189 | 107783189 | Human | | name |
| 402510713 | CV3042527 | single nucleotide variant | NM_000111.3(SLC26A3):c.1585-13C>A | not provided [RCV003715645] | likely benign | 7 | 107776557 | 107776557 | Human | | name |
| 402511658 | CV3042543 | single nucleotide variant | NM_000111.3(SLC26A3):c.1774-16T>C | not provided [RCV003715655] | likely benign | 7 | 107774169 | 107774169 | Human | | name |
| 11611151 | CV309476 | single nucleotide variant | NM_000111.3(SLC26A3):c.1677+10G>A | Congenital secretory diarrhea, chloride type [RCV000391208]|not provided [RCV001511136] | benign|uncertain significance | 7 | 107776442 | 107776442 | Human | 1 | name |
| 405112843 | CV3118610 | single nucleotide variant | NM_000111.3(SLC26A3):c.1407+18T>C | not provided [RCV003813838] | likely benign | 7 | 107779650 | 107779650 | Human | | name |
| 405060494 | CV3129450 | single nucleotide variant | NM_000111.3(SLC26A3):c.2063-10T>C | not provided [RCV003832719] | likely benign | 7 | 107767918 | 107767918 | Human | | name |
| 405135928 | CV3130506 | single nucleotide variant | NM_000111.3(SLC26A3):c.2271+13A>C | not provided [RCV003838739] | likely benign | 7 | 107767566 | 107767566 | Human | | name |
| 405081613 | CV3137193 | single nucleotide variant | NM_000111.3(SLC26A3):c.2063-15T>C | not provided [RCV003834092] | likely benign | 7 | 107767923 | 107767923 | Human | | name |
| 405082726 | CV3137447 | single nucleotide variant | NM_000111.3(SLC26A3):c.1311+15G>A | not provided [RCV003834156] | likely benign | 7 | 107782782 | 107782782 | Human | | name |
| 405231342 | CV3144407 | single nucleotide variant | NM_000111.3(SLC26A3):c.1677+18T>G | not provided [RCV003852860] | likely benign | 7 | 107776434 | 107776434 | Human | | name |
| 405210637 | CV3145916 | single nucleotide variant | NM_000111.3(SLC26A3):c.1774-19T>C | not provided [RCV003845646] | likely benign | 7 | 107774172 | 107774172 | Human | | name |
| 405198366 | CV3146763 | single nucleotide variant | NM_000111.3(SLC26A3):c.2205+10C>T | not provided [RCV003844118] | likely benign | 7 | 107767756 | 107767756 | Human | | name |
| 405166313 | CV3149426 | single nucleotide variant | NM_000111.3(SLC26A3):c.2063-17T>C | not provided [RCV003841088] | likely benign | 7 | 107767925 | 107767925 | Human | | name |
| 405231113 | CV3157235 | single nucleotide variant | NM_000111.3(SLC26A3):c.1773+11T>G | not provided [RCV003865185] | likely benign | 7 | 107774766 | 107774766 | Human | | name |
| 405182892 | CV3159602 | single nucleotide variant | NM_000111.3(SLC26A3):c.1514+12A>G | not provided [RCV003858853] | likely benign | 7 | 107778163 | 107778163 | Human | | name |
| 405246444 | CV3162240 | single nucleotide variant | NM_000111.3(SLC26A3):c.2008-17A>G | not provided [RCV003868759] | likely benign | 7 | 107772125 | 107772125 | Human | | name |
| 402465761 | CV3177262 | single nucleotide variant | NM_000111.3(SLC26A3):c.1774-13T>A | not provided [RCV003872893] | likely benign | 7 | 107774166 | 107774166 | Human | | name |
| 597971589 | CV3750774 | single nucleotide variant | NM_000111.3(SLC26A3):c.2205+13T>C | not provided [RCV005084518] | likely benign | 7 | 107767753 | 107767753 | Human | | name |
| 597916400 | CV3771544 | single nucleotide variant | NM_000111.3(SLC26A3):c.1678-12T>C | not provided [RCV005114475] | likely benign | 7 | 107774884 | 107774884 | Human | | name |
| 597871560 | CV3806023 | single nucleotide variant | NM_000111.3(SLC26A3):c.1773+10T>C | not provided [RCV005148433] | likely benign | 7 | 107774767 | 107774767 | Human | | name |
| 597939861 | CV3818736 | single nucleotide variant | NM_000111.3(SLC26A3):c.1407+17G>A | not provided [RCV005158742] | likely benign | 7 | 107779651 | 107779651 | Human | | name |
| 597940742 | CV3819115 | single nucleotide variant | NM_000111.3(SLC26A3):c.2063-10T>G | not provided [RCV005158926] | likely benign | 7 | 107767918 | 107767918 | Human | | name |
| 597963305 | CV3819584 | single nucleotide variant | NM_000111.3(SLC26A3):c.1774-12C>G | not provided [RCV005164300] | likely benign | 7 | 107774165 | 107774165 | Human | | name |
| 597855188 | CV3821771 | single nucleotide variant | NM_000111.3(SLC26A3):c.1408-14C>T | not provided [RCV005174249] | likely benign | 7 | 107778295 | 107778295 | Human | | name |
| 597841266 | CV3825486 | single nucleotide variant | NM_000111.3(SLC26A3):c.1677+20A>C | not provided [RCV005172169] | likely benign | 7 | 107776432 | 107776432 | Human | | name |
| 597895473 | CV3833685 | single nucleotide variant | NM_000111.3(SLC26A3):c.1119+15T>C | not provided [RCV005180377] | likely benign | 7 | 107783190 | 107783190 | Human | | name |
| 150423986 | CV1183910 | single nucleotide variant | NM_000111.3(SLC26A3):c.2007+180C>T | not provided [RCV001556055] | likely benign | 7 | 107773740 | 107773740 | Human | | name |
| 150468192 | CV1218880 | single nucleotide variant | NM_000111.3(SLC26A3):c.1678-147A>G | not provided [RCV001614632] | benign | 7 | 107775019 | 107775019 | Human | | name |
| 150448555 | CV1270478 | single nucleotide variant | NM_000111.3(SLC26A3):c.2062+174A>T | not provided [RCV001691616] | benign | 7 | 107771880 | 107771880 | Human | | name |
| 150453488 | CV1276852 | single nucleotide variant | NM_000111.3(SLC26A3):c.1312-146G>A | not provided [RCV001708642] | benign | 7 | 107779909 | 107779909 | Human | | name |
| 150520728 | CV1290580 | single nucleotide variant | NM_000111.3(SLC26A3):c.2007+183C>T | not provided [RCV001732272] | likely benign | 7 | 107773737 | 107773737 | Human | | name |
| 155268883 | CV1705709 | single nucleotide variant | NM_000111.3(SLC26A3):c.1774-215T>C | not provided [RCV002286317] | likely benign | 7 | 107774368 | 107774368 | Human | | name |
| 150450956 | CV1276532 | microsatellite | NM_000111.3(SLC26A3):c.382+177ATTT[6] | not provided [RCV001708321] | benign | 7 | 107791626 | 107791629 | Human | | name |
| 405230095 | CV2904986 | microsatellite | NM_000111.3(SLC26A3):c.735+4_735+7del | Congenital secretory diarrhea, chloride type [RCV004587531]|not provided [RCV003555366] | pathogenic | 7 | 107789517 | 107789520 | Human | | name |
| 597686583 | CV3718760 | deletion | NM_000111.3(SLC26A3):c.971+3_971+4del | Congenital secretory diarrhea, chloride type [RCV005045912] | likely pathogenic | 7 | 107786823 | 107786824 | Human | 1 | name |
| 156444024 | CV1941303 | single nucleotide variant | NM_000111.3(SLC26A3):c.12C>T (p.Pro4=) | not provided [RCV003114940] | likely benign | 7 | 107794498 | 107794498 | Human | | name |
| 155913408 | CV2011272 | single nucleotide variant | NM_000111.3(SLC26A3):c.15T>C (p.Phe5=) | not provided [RCV002681879] | likely benign | 7 | 107794495 | 107794495 | Human | | name |
| 405248826 | CV2987201 | single nucleotide variant | NM_000111.3(SLC26A3):c.27T>C (p.Tyr9=) | not provided [RCV003686054] | likely benign | 7 | 107794483 | 107794483 | Human | | name |
| 152100157 | CV1606677 | single nucleotide variant | NM_000111.3(SLC26A3):c.93T>C (p.His31=) | not provided [RCV002195444] | likely benign | 7 | 107794417 | 107794417 | Human | | name |
| 402513950 | CV2860289 | single nucleotide variant | NM_000111.3(SLC26A3):c.48T>C (p.Tyr16=) | not provided [RCV003575332] | likely benign | 7 | 107794462 | 107794462 | Human | | name |
| 151780885 | CV1363877 | single nucleotide variant | NM_000111.3(SLC26A3):c.270A>G (p.Gln90=) | not provided [RCV001864951] | uncertain significance | 7 | 107793743 | 107793743 | Human | | name |
| 152027359 | CV1562784 | single nucleotide variant | NM_000111.3(SLC26A3):c.261C>T (p.Ala87=) | not provided [RCV002104866] | likely benign | 7 | 107793752 | 107793752 | Human | | name |
| 152123982 | CV1562968 | single nucleotide variant | NM_000111.3(SLC26A3):c.294C>T (p.Val98=) | not provided [RCV002118202] | likely benign | 7 | 107791918 | 107791918 | Human | | name |
| 152085127 | CV1617203 | single nucleotide variant | NM_000111.3(SLC26A3):c.114T>C (p.His38=) | not provided [RCV002076882] | likely benign | 7 | 107794396 | 107794396 | Human | | name |
| 152093588 | CV1625927 | single nucleotide variant | NM_000111.3(SLC26A3):c.165C>A (p.Leu55=) | not provided [RCV002150903] | likely benign | 7 | 107793848 | 107793848 | Human | | name |
| 155918725 | CV2031997 | single nucleotide variant | NM_000111.3(SLC26A3):c.135T>C (p.Cys45=) | not provided [RCV002727271] | likely benign | 7 | 107793878 | 107793878 | Human | | name |
| 156121046 | CV2077999 | single nucleotide variant | NM_000111.3(SLC26A3):c.249A>T (p.Thr83=) | not provided [RCV002889563] | likely benign | 7 | 107793764 | 107793764 | Human | | name |
| 156237909 | CV2119248 | single nucleotide variant | NM_000111.3(SLC26A3):c.258G>T (p.Val86=) | not provided [RCV002958762] | likely benign | 7 | 107793755 | 107793755 | Human | | name |
| 156028743 | CV2156254 | duplication | NM_000111.3(SLC26A3):c.2063-10_2063-9dup | not provided [RCV003018580] | benign | 7 | 107767916 | 107767917 | Human | | name |
| 402491875 | CV2866796 | single nucleotide variant | NM_000111.3(SLC26A3):c.267A>G (p.Leu89=) | not provided [RCV003573026] | likely benign | 7 | 107793746 | 107793746 | Human | | name |
| 405092438 | CV2878195 | duplication | NM_000111.3(SLC26A3):c.67dup (p.Glu23fs) | not provided [RCV003549996] | pathogenic | 7 | 107794442 | 107794443 | Human | | name |
| 405213112 | CV2918276 | single nucleotide variant | NM_000111.3(SLC26A3):c.279A>G (p.Ala93=) | not provided [RCV003567415] | likely benign | 7 | 107791933 | 107791933 | Human | | name |
| 405121095 | CV3003966 | single nucleotide variant | NM_000111.3(SLC26A3):c.144A>G (p.Gln48=) | not provided [RCV003723898] | likely benign | 7 | 107793869 | 107793869 | Human | | name |
| 404998108 | CV3008754 | duplication | NM_000111.3(SLC26A3):c.1514+9_1514+10dup | not provided [RCV003692887] | likely benign | 7 | 107778164 | 107778165 | Human | | name |
| 405162572 | CV3017912 | single nucleotide variant | NM_000111.3(SLC26A3):c.198A>G (p.Ala66=) | not provided [RCV003704069] | likely benign | 7 | 107793815 | 107793815 | Human | | name |
| 405204413 | CV3033496 | single nucleotide variant | NM_000111.3(SLC26A3):c.138C>T (p.Ser46=) | not provided [RCV003707817] | likely benign | 7 | 107793875 | 107793875 | Human | | name |
| 405030111 | CV3129952 | single nucleotide variant | NM_000111.3(SLC26A3):c.219G>A (p.Leu73=) | not provided [RCV003830551] | likely benign | 7 | 107793794 | 107793794 | Human | | name |
| 405069825 | CV3140242 | deletion | NM_000111.3(SLC26A3):c.2272-12_2272-9del | not provided [RCV003833397] | likely benign | 7 | 107765887 | 107765890 | Human | | name |
| 405055234 | CV3151460 | single nucleotide variant | NM_000111.3(SLC26A3):c.123G>A (p.Val41=) | not provided [RCV003849869] | likely benign | 7 | 107794387 | 107794387 | Human | | name |
| 405211758 | CV3173425 | single nucleotide variant | NM_000111.3(SLC26A3):c.217T>C (p.Leu73=) | not provided [RCV003862174] | likely benign | 7 | 107793796 | 107793796 | Human | | name |
| 597877234 | CV3744234 | single nucleotide variant | NM_000111.3(SLC26A3):c.202C>A (p.Arg68=) | not provided [RCV005069448] | uncertain significance | 7 | 107793811 | 107793811 | Human | | name |
| 597970333 | CV3750219 | single nucleotide variant | NM_000111.3(SLC26A3):c.186T>C (p.Ser62=) | not provided [RCV005084160] | likely benign | 7 | 107793827 | 107793827 | Human | | name |
| 597923491 | CV3772436 | single nucleotide variant | NM_000111.3(SLC26A3):c.183A>T (p.Ala61=) | not provided [RCV005115586] | likely benign | 7 | 107793830 | 107793830 | Human | | name |
| 597886000 | CV3800031 | single nucleotide variant | NM_000111.3(SLC26A3):c.123G>C (p.Val41=) | not provided [RCV005150510] | likely benign | 7 | 107794387 | 107794387 | Human | | name |
| 597971568 | CV3833101 | single nucleotide variant | NM_000111.3(SLC26A3):c.183A>C (p.Ala61=) | not provided [RCV005166998] | likely benign | 7 | 107793830 | 107793830 | Human | | name |
| 28906072 | CV897229 | single nucleotide variant | NM_000111.3(SLC26A3):c.261C>A (p.Ala87=) | Congenital secretory diarrhea, chloride type [RCV001158762]|not provided [RCV002070958] | likely benign|uncertain significance | 7 | 107793752 | 107793752 | Human | 1 | name |
| 126768011 | CV1007088 | single nucleotide variant | NM_000111.3(SLC26A3):c.59C>T (p.Ala20Val) | not provided [RCV001321113] | uncertain significance | 7 | 107794451 | 107794451 | Human | | name |
| 150405964 | CV1176853 | duplication | NM_000111.3(SLC26A3):c.971+199_971+200dup | not provided [RCV001545099] | likely benign | 7 | 107786613 | 107786614 | Human | | name |
| 150493856 | CV1226045 | duplication | NM_000111.3(SLC26A3):c.1408-96_1408-92dup | not provided [RCV001619263] | benign | 7 | 107778360 | 107778361 | Human | | name |
| 150489225 | CV1237616 | duplication | NM_000111.3(SLC26A3):c.1408-96_1408-86dup | not provided [RCV001654465] | benign | 7 | 107778360 | 107778361 | Human | | name |
| 150505810 | CV1242059 | deletion | NM_000111.3(SLC26A3):c.570+248_570+251del | not provided [RCV001658410] | benign | 7 | 107790797 | 107790800 | Human | | name |
| 150440156 | CV1247819 | duplication | NM_000111.3(SLC26A3):c.1408-96_1408-84dup | not provided [RCV001666186] | benign | 7 | 107778360 | 107778361 | Human | | name |
| 150488345 | CV1265233 | duplication | NM_000111.3(SLC26A3):c.1408-96_1408-88dup | not provided [RCV001687269] | benign | 7 | 107778360 | 107778361 | Human | | name |
| 150474883 | CV1278950 | duplication | NM_000111.3(SLC26A3):c.1408-96_1408-91dup | not provided [RCV001713761] | benign | 7 | 107778360 | 107778361 | Human | | name |
| 151798464 | CV1356754 | single nucleotide variant | NM_000111.3(SLC26A3):c.645T>A (p.Thr215=) | not provided [RCV001990725] | likely benign|uncertain significance | 7 | 107789614 | 107789614 | Human | | name |
| 151879278 | CV1383671 | single nucleotide variant | NM_000111.3(SLC26A3):c.29T>C (p.Ile10Thr) | Inborn genetic diseases [RCV004039765]|not provided [RCV001907459] | uncertain significance | 7 | 107794481 | 107794481 | Human | 1 | name |
| 152158505 | CV1542017 | single nucleotide variant | NM_000111.3(SLC26A3):c.324A>T (p.Ala108=) | not provided [RCV002103337] | likely benign | 7 | 107791888 | 107791888 | Human | | name |
| 152050862 | CV1552784 | deletion | NM_000111.3(SLC26A3):c.1677+17_1677+20del | not provided [RCV002145676] | likely benign | 7 | 107776432 | 107776435 | Human | | name |
| 152125796 | CV1554131 | single nucleotide variant | NM_000111.3(SLC26A3):c.705G>A (p.Pro235=) | not provided [RCV002098802] | likely benign | 7 | 107789554 | 107789554 | Human | | name |
| 152116269 | CV1554175 | single nucleotide variant | NM_000111.3(SLC26A3):c.393G>A (p.Pro131=) | not provided [RCV002117234] | likely benign | 7 | 107791225 | 107791225 | Human | | name |
| 152150943 | CV1559580 | single nucleotide variant | NM_000111.3(SLC26A3):c.324A>G (p.Ala108=) | not provided [RCV002220807] | likely benign | 7 | 107791888 | 107791888 | Human | | name |
| 152131743 | CV1584963 | single nucleotide variant | NM_000111.3(SLC26A3):c.750A>T (p.Val250=) | not provided [RCV002082955] | likely benign | 7 | 107787495 | 107787495 | Human | | name |
| 152150951 | CV1605528 | single nucleotide variant | NM_000111.3(SLC26A3):c.957G>T (p.Gly319=) | not provided [RCV002102220] | likely benign | 7 | 107786841 | 107786841 | Human | | name |
| 152033506 | CV1610379 | single nucleotide variant | NM_000111.3(SLC26A3):c.531G>A (p.Ala177=) | SLC26A3-related disorder [RCV003970943]|not provided [RCV002124945] | benign|likely benign | 7 | 107791087 | 107791087 | Human | 1 | name , trait , alternate_id |
| 152066811 | CV1636652 | deletion | NM_000111.3(SLC26A3):c.2062+13_2062+16del | not provided [RCV002110902] | likely benign | 7 | 107772038 | 107772041 | Human | | name |
| 152056543 | CV1636869 | single nucleotide variant | NM_000111.3(SLC26A3):c.534G>A (p.Ala178=) | not provided [RCV002208165] | likely benign | 7 | 107791084 | 107791084 | Human | | name |
| 152067769 | CV1647234 | single nucleotide variant | NM_000111.3(SLC26A3):c.387G>A (p.Pro129=) | not provided [RCV002129200] | likely benign | 7 | 107791231 | 107791231 | Human | | name |
| 156410767 | CV1882743 | single nucleotide variant | NM_000111.3(SLC26A3):c.513C>T (p.Asp171=) | not provided [RCV003072201] | likely benign | 7 | 107791105 | 107791105 | Human | | name |
| 156152043 | CV1896025 | single nucleotide variant | NM_000111.3(SLC26A3):c.537G>A (p.Ala179=) | not provided [RCV003082584] | likely benign | 7 | 107791081 | 107791081 | Human | | name |
| 156085962 | CV1898966 | single nucleotide variant | NM_000111.3(SLC26A3):c.39G>T (p.Arg13Ser) | not provided [RCV003080038] | uncertain significance | 7 | 107794471 | 107794471 | Human | | name |
| 156301499 | CV1955595 | deletion | NM_000111.3(SLC26A3):c.2272-14_2272-13del | not provided [RCV002578247] | likely benign | 7 | 107765891 | 107765892 | Human | | name |
| 156213561 | CV1997262 | deletion | NM_000111.3(SLC26A3):c.2062+19_2062+23del | not provided [RCV002666935] | likely benign | 7 | 107772031 | 107772035 | Human | | name |
| 156034684 | CV2002585 | single nucleotide variant | NM_000111.3(SLC26A3):c.77A>C (p.Lys26Thr) | not provided [RCV002658805] | uncertain significance | 7 | 107794433 | 107794433 | Human | | name |
| 156399218 | CV2013155 | single nucleotide variant | NM_000111.3(SLC26A3):c.498T>C (p.Ser166=) | not provided [RCV002725854] | likely benign | 7 | 107791120 | 107791120 | Human | | name |
| 155917886 | CV2031940 | single nucleotide variant | NM_000111.3(SLC26A3):c.702C>T (p.Val234=) | not provided [RCV002727231] | likely benign | 7 | 107789557 | 107789557 | Human | | name |
| 155946707 | CV2072691 | single nucleotide variant | NM_000111.3(SLC26A3):c.891C>A (p.Thr297=) | not provided [RCV002862111] | uncertain significance | 7 | 107786907 | 107786907 | Human | | name |
| 156294714 | CV2073416 | single nucleotide variant | NM_000111.3(SLC26A3):c.475T>C (p.Leu159=) | not provided [RCV002833348] | likely benign | 7 | 107791143 | 107791143 | Human | | name |
| 155919399 | CV2073625 | deletion | NM_000111.3(SLC26A3):c.1407+13_1407+16del | not provided [RCV002838237] | likely benign | 7 | 107779652 | 107779655 | Human | | name |
| 156226888 | CV2081146 | single nucleotide variant | NM_000111.3(SLC26A3):c.612C>T (p.Tyr204=) | not provided [RCV002853423] | likely benign | 7 | 107789647 | 107789647 | Human | | name |
| 156095555 | CV2167337 | single nucleotide variant | NM_000111.3(SLC26A3):c.519G>A (p.Arg173=) | not provided [RCV003038377] | likely benign | 7 | 107791099 | 107791099 | Human | | name |
| 156198345 | CV2169551 | single nucleotide variant | NM_000111.3(SLC26A3):c.98A>G (p.Lys33Arg) | not provided [RCV003041883] | uncertain significance | 7 | 107794412 | 107794412 | Human | | name |
| 156121775 | CV2174969 | single nucleotide variant | NM_000111.3(SLC26A3):c.948T>C (p.Ala316=) | not provided [RCV003055495] | likely benign | 7 | 107786850 | 107786850 | Human | | name |
| 156141565 | CV2191922 | single nucleotide variant | NM_000111.3(SLC26A3):c.636C>T (p.Gly212=) | not provided [RCV003056204] | likely benign | 7 | 107789623 | 107789623 | Human | | name |
| 401908978 | CV2823101 | single nucleotide variant | NM_000111.3(SLC26A3):c.447C>G (p.Val149=) | not provided [RCV003423742] | likely benign | 7 | 107791171 | 107791171 | Human | | name |
| 402513933 | CV2860288 | single nucleotide variant | NM_000111.3(SLC26A3):c.76A>T (p.Lys26Ter) | not provided [RCV003575331] | pathogenic | 7 | 107794434 | 107794434 | Human | | name |
| 405202968 | CV2861612 | single nucleotide variant | NM_000111.3(SLC26A3):c.591G>A (p.Arg197=) | not provided [RCV003551582] | likely benign | 7 | 107789668 | 107789668 | Human | | name |
| 405020360 | CV2866288 | single nucleotide variant | NM_000111.3(SLC26A3):c.750A>G (p.Val250=) | not provided [RCV003577520] | likely benign | 7 | 107787495 | 107787495 | Human | | name |
| 405196061 | CV2868858 | single nucleotide variant | NM_000111.3(SLC26A3):c.606G>A (p.Val202=) | not provided [RCV003550843] | likely benign | 7 | 107789653 | 107789653 | Human | | name |
| 405208030 | CV2870436 | single nucleotide variant | NM_000111.3(SLC26A3):c.813T>C (p.Val271=) | not provided [RCV003552195] | likely benign | 7 | 107787432 | 107787432 | Human | | name |
| 405208811 | CV2870643 | single nucleotide variant | NM_000111.3(SLC26A3):c.903A>C (p.Ala301=) | not provided [RCV003552299] | likely benign | 7 | 107786895 | 107786895 | Human | | name |
| 402518997 | CV2870944 | insertion | NM_000111.3(SLC26A3):c.570+10_570+11insCC | not provided [RCV003547615] | likely benign | 7 | 107791037 | 107791038 | Human | | name |
| 402495916 | CV2883654 | single nucleotide variant | NM_000111.3(SLC26A3):c.397C>T (p.Leu133=) | not provided [RCV003573391] | likely benign | 7 | 107791221 | 107791221 | Human | | name |
| 402507267 | CV2884462 | single nucleotide variant | NM_000111.3(SLC26A3):c.726A>G (p.Ser242=) | not provided [RCV003546336] | likely benign | 7 | 107789533 | 107789533 | Human | | name |
| 405120345 | CV2887931 | single nucleotide variant | NM_000111.3(SLC26A3):c.597A>T (p.Gly199=) | not provided [RCV003559024] | likely benign | 7 | 107789662 | 107789662 | Human | | name |
| 405114629 | CV2896789 | deletion | NM_000111.3(SLC26A3):c.240del (p.Ile81fs) | not provided [RCV003558351] | pathogenic | 7 | 107793773 | 107793773 | Human | | name |
| 405113466 | CV2900673 | single nucleotide variant | NM_000111.3(SLC26A3):c.699A>G (p.Thr233=) | not provided [RCV003558148] | likely benign | 7 | 107789560 | 107789560 | Human | | name |
| 402465253 | CV2916646 | microsatellite | NM_000111.3(SLC26A3):c.1119+11_1119+14del | not provided [RCV003569195] | likely benign | 7 | 107783191 | 107783194 | Human | | name |
| 402468707 | CV2930534 | single nucleotide variant | NM_000111.3(SLC26A3):c.603A>G (p.Val201=) | not provided [RCV003569885] | likely benign | 7 | 107789656 | 107789656 | Human | | name |
| 402488206 | CV2941560 | single nucleotide variant | NM_000111.3(SLC26A3):c.966T>C (p.Asn322=) | not provided [RCV003660289] | likely benign | 7 | 107786832 | 107786832 | Human | | name |
| 402489269 | CV2941708 | single nucleotide variant | NM_000111.3(SLC26A3):c.936G>A (p.Arg312=) | not provided [RCV003660388] | likely benign | 7 | 107786862 | 107786862 | Human | | name |
| 405088244 | CV2943396 | single nucleotide variant | NM_000111.3(SLC26A3):c.333C>T (p.Phe111=) | not provided [RCV003665103] | likely benign | 7 | 107791879 | 107791879 | Human | | name |
| 405078206 | CV2945266 | microsatellite | NM_000111.3(SLC26A3):c.1234-22_1234-20del | not provided [RCV003664347] | likely benign | 7 | 107782894 | 107782896 | Human | | name |
| 405117898 | CV2949567 | single nucleotide variant | NM_000111.3(SLC26A3):c.732C>T (p.Phe244=) | not provided [RCV003667052] | likely benign | 7 | 107789527 | 107789527 | Human | | name |
| 405119456 | CV2955895 | single nucleotide variant | NM_000111.3(SLC26A3):c.606G>T (p.Val202=) | not provided [RCV003671233] | likely benign | 7 | 107789653 | 107789653 | Human | | name |
| 405130262 | CV2962205 | single nucleotide variant | NM_000111.3(SLC26A3):c.528G>A (p.Val176=) | not provided [RCV003668226] | likely benign | 7 | 107791090 | 107791090 | Human | | name |
| 405226406 | CV2967088 | single nucleotide variant | NM_000111.3(SLC26A3):c.327C>A (p.Ser109=) | not provided [RCV003681493] | likely benign | 7 | 107791885 | 107791885 | Human | | name |
| 405245778 | CV2969187 | single nucleotide variant | NM_000111.3(SLC26A3):c.423T>C (p.Val141=) | not provided [RCV003685155] | likely benign | 7 | 107791195 | 107791195 | Human | | name |
| 405243770 | CV2971720 | single nucleotide variant | NM_000111.3(SLC26A3):c.345C>A (p.Ile115=) | not provided [RCV003684671] | likely benign | 7 | 107791867 | 107791867 | Human | | name |
| 405236350 | CV2973421 | single nucleotide variant | NM_000111.3(SLC26A3):c.546C>T (p.Val182=) | not provided [RCV003683147] | likely benign | 7 | 107791072 | 107791072 | Human | | name |
| 405234546 | CV2975569 | single nucleotide variant | NM_000111.3(SLC26A3):c.549A>T (p.Thr183=) | not provided [RCV003682722] | likely benign | 7 | 107791069 | 107791069 | Human | | name |
| 405212074 | CV2984009 | single nucleotide variant | NM_000111.3(SLC26A3):c.321T>C (p.Tyr107=) | not provided [RCV003708842] | likely benign | 7 | 107791891 | 107791891 | Human | | name |
| 402489350 | CV2984466 | single nucleotide variant | NM_000111.3(SLC26A3):c.546C>A (p.Val182=) | not provided [RCV003713623] | likely benign | 7 | 107791072 | 107791072 | Human | | name |
| 405194453 | CV2985982 | single nucleotide variant | NM_000111.3(SLC26A3):c.792A>T (p.Thr264=) | not provided [RCV003706767] | likely benign | 7 | 107787453 | 107787453 | Human | | name |
| 405230110 | CV2987331 | single nucleotide variant | NM_000111.3(SLC26A3):c.312T>C (p.Tyr104=) | not provided [RCV003711370] | likely benign | 7 | 107791900 | 107791900 | Human | | name |
| 405202388 | CV2989170 | single nucleotide variant | NM_000111.3(SLC26A3):c.993T>G (p.Pro331=) | not provided [RCV003678312] | likely benign | 7 | 107783331 | 107783331 | Human | | name |
| 405205574 | CV2990727 | single nucleotide variant | NM_000111.3(SLC26A3):c.417A>G (p.Leu139=) | not provided [RCV003678618] | likely benign | 7 | 107791201 | 107791201 | Human | | name |
| 402480168 | CV2991067 | single nucleotide variant | NM_000111.3(SLC26A3):c.477G>A (p.Leu159=) | not provided [RCV003686517] | likely benign | 7 | 107791141 | 107791141 | Human | | name |
| 405248530 | CV3003697 | single nucleotide variant | NM_000111.3(SLC26A3):c.303C>T (p.Pro101=) | not provided [RCV003721139] | likely benign | 7 | 107791909 | 107791909 | Human | | name |
| 405000733 | CV3005321 | single nucleotide variant | NM_000111.3(SLC26A3):c.744C>T (p.Tyr248=) | not provided [RCV003693091] | likely benign | 7 | 107787501 | 107787501 | Human | | name |
| 402521570 | CV3011215 | single nucleotide variant | NM_000111.3(SLC26A3):c.414A>G (p.Gly138=) | not provided [RCV003716471] | likely benign | 7 | 107791204 | 107791204 | Human | | name |
| 11661846 | CV301451 | single nucleotide variant | NM_000111.3(SLC26A3):c.738A>G (p.Val246=) | Congenital secretory diarrhea, chloride type [RCV000380704] | uncertain significance | 7 | 107787507 | 107787507 | Human | 1 | name |
| 405005600 | CV3016567 | deletion | NM_000111.3(SLC26A3):c.1515-23_1515-20del | not provided [RCV003693490] | likely benign | 7 | 107776726 | 107776729 | Human | | name |
| 405057047 | CV3019578 | single nucleotide variant | NM_000111.3(SLC26A3):c.702C>G (p.Val234=) | not provided [RCV003697414] | likely benign | 7 | 107789557 | 107789557 | Human | | name |
| 405065154 | CV3020729 | single nucleotide variant | NM_000111.3(SLC26A3):c.549A>G (p.Thr183=) | not provided [RCV003697906] | likely benign | 7 | 107791069 | 107791069 | Human | | name |
| 405084366 | CV3028168 | single nucleotide variant | NM_000111.3(SLC26A3):c.315G>A (p.Gly105=) | not provided [RCV003699271] | likely benign | 7 | 107791897 | 107791897 | Human | | name |
| 405208269 | CV3037153 | single nucleotide variant | NM_000111.3(SLC26A3):c.387G>C (p.Pro129=) | not provided [RCV003708293] | likely benign | 7 | 107791231 | 107791231 | Human | | name |
| 402499509 | CV3038369 | single nucleotide variant | NM_000111.3(SLC26A3):c.660T>C (p.His220=) | not provided [RCV003714591] | likely benign | 7 | 107789599 | 107789599 | Human | | name |
| 402514301 | CV3039769 | single nucleotide variant | NM_000111.3(SLC26A3):c.981C>G (p.Pro327=) | not provided [RCV003715819] | likely benign | 7 | 107783343 | 107783343 | Human | | name |
| 11606005 | CV304699 | single nucleotide variant | NM_000111.3(SLC26A3):c.741A>G (p.Leu247=) | Congenital secretory diarrhea, chloride type [RCV000326115]|not provided [RCV002058645] | benign|uncertain significance | 7 | 107787504 | 107787504 | Human | 1 | name |
| 405201138 | CV3066885 | single nucleotide variant | NM_000111.3(SLC26A3):c.489G>A (p.Ser163=) | not provided [RCV003730783] | likely benign | 7 | 107791129 | 107791129 | Human | | name |
| 11600600 | CV309335 | single nucleotide variant | NM_000111.3(SLC26A3):c.996C>T (p.Asp332=) | Congenital secretory diarrhea, chloride type [RCV000274999]|not provided [RCV000963219] | benign|likely benign | 7 | 107783328 | 107783328 | Human | 1 | name |
| 11609255 | CV309345 | single nucleotide variant | NM_000111.3(SLC26A3):c.891C>T (p.Thr297=) | Congenital secretory diarrhea, chloride type [RCV000366052]|not provided [RCV002524519] | likely benign|uncertain significance | 7 | 107786907 | 107786907 | Human | 1 | name |
| 405107522 | CV3136251 | single nucleotide variant | NM_000111.3(SLC26A3):c.555T>G (p.Leu185=) | SLC26A3-related disorder [RCV003939221]|not provided [RCV003835597] | likely benign | 7 | 107791063 | 107791063 | Human | 1 | name , trait , alternate_id |
| 405137072 | CV3144681 | deletion | NM_000111.3(SLC26A3):c.2063-18_2063-17del | not provided [RCV003855198] | likely benign | 7 | 107767925 | 107767926 | Human | | name |
| 405067524 | CV3148964 | deletion | NM_000111.3(SLC26A3):c.1515-18_1515-16del | not provided [RCV003850726] | likely benign | 7 | 107776722 | 107776724 | Human | | name |
| 405209306 | CV3162590 | single nucleotide variant | NM_000111.3(SLC26A3):c.666G>A (p.Leu222=) | not provided [RCV003861889] | likely benign | 7 | 107789593 | 107789593 | Human | | name |
| 405090523 | CV3167866 | single nucleotide variant | NM_000111.3(SLC26A3):c.897T>C (p.Ile299=) | not provided [RCV003852256] | likely benign | 7 | 107786901 | 107786901 | Human | | name |
| 407509465 | CV3474073 | single nucleotide variant | NM_000111.3(SLC26A3):c.76A>G (p.Lys26Glu) | Inborn genetic diseases [RCV004672384] | uncertain significance | 7 | 107794434 | 107794434 | Human | 1 | name |
| 597701286 | CV3718764 | single nucleotide variant | NM_000111.3(SLC26A3):c.48T>G (p.Tyr16Ter) | Congenital secretory diarrhea, chloride type [RCV005033535] | likely pathogenic | 7 | 107794462 | 107794462 | Human | 1 | name |
| 597839455 | CV3737024 | single nucleotide variant | NM_000111.3(SLC26A3):c.387G>T (p.Pro129=) | not provided [RCV005064504] | likely benign | 7 | 107791231 | 107791231 | Human | | name |
| 597893694 | CV3763526 | single nucleotide variant | NM_000111.3(SLC26A3):c.672C>T (p.Ser224=) | not provided [RCV005111107] | likely benign | 7 | 107789587 | 107789587 | Human | | name |
| 597919760 | CV3765029 | single nucleotide variant | NM_000111.3(SLC26A3):c.633T>C (p.Ser211=) | not provided [RCV005115044] | likely benign | 7 | 107789626 | 107789626 | Human | | name |
| 597956379 | CV3792391 | single nucleotide variant | NM_000111.3(SLC26A3):c.615G>C (p.Leu205=) | not provided [RCV005137278] | likely benign | 7 | 107789644 | 107789644 | Human | | name |
| 597957954 | CV3814505 | single nucleotide variant | NM_000111.3(SLC26A3):c.798G>A (p.Leu266=) | not provided [RCV005162836] | likely benign | 7 | 107787447 | 107787447 | Human | | name |
| 597951345 | CV3815343 | single nucleotide variant | NM_000111.3(SLC26A3):c.978G>A (p.Gln326=) | not provided [RCV005161293] | likely benign | 7 | 107783346 | 107783346 | Human | | name |
| 597852955 | CV3825084 | single nucleotide variant | NM_000111.3(SLC26A3):c.864G>T (p.Val288=) | not provided [RCV005173932] | likely benign | 7 | 107787381 | 107787381 | Human | | name |
| 598169342 | CV3918319 | single nucleotide variant | NM_000111.3(SLC26A3):c.83C>G (p.Thr28Arg) | Inborn genetic diseases [RCV005284253] | likely benign | 7 | 107794427 | 107794427 | Human | 1 | name |
| 15185255 | CV699735 | single nucleotide variant | NM_000111.3(SLC26A3):c.378C>T (p.Ser126=) | Congenital secretory diarrhea, chloride type [RCV001158758]|not provided [RCV000952926] | benign|likely benign | 7 | 107791834 | 107791834 | Human | 1 | name |
| 15197638 | CV699736 | single nucleotide variant | NM_000111.3(SLC26A3):c.357C>T (p.Phe119=) | Congenital secretory diarrhea, chloride type [RCV001158759]|not provided [RCV000956521] | benign | 7 | 107791855 | 107791855 | Human | 1 | name |
| 8616724 | CV70625 | duplication | NM_000111.3(SLC26A3):c.177dup (p.Ile60fs) | Congenital secretory diarrhea, chloride type [RCV000049395]|not provided [RCV003556123] | pathogenic|likely pathogenic | 7 | 107793835 | 107793836 | Human | 1 | name |
| 15162101 | CV750331 | single nucleotide variant | NM_000111.3(SLC26A3):c.498T>G (p.Ser166=) | not provided [RCV000925822] | likely benign | 7 | 107791120 | 107791120 | Human | | name |
| 28870029 | CV897223 | single nucleotide variant | NM_000111.3(SLC26A3):c.915C>T (p.Tyr305=) | Congenital secretory diarrhea, chloride type [RCV001163360]|SLC26A3-related disorder [RCV003898159]|not provided [RCV002559564] | likely benign|uncertain significance | 7 | 107786883 | 107786883 | Human | 1 | name , trait , alternate_id |
| 28908460 | CV897230 | single nucleotide variant | NM_000111.3(SLC26A3):c.58G>A (p.Ala20Thr) | Congenital secretory diarrhea, chloride type [RCV001160114] | uncertain significance | 7 | 107794452 | 107794452 | Human | 1 | name |
| 127241110 | CV1060961 | deletion | NM_000111.3(SLC26A3):c.614del (p.Leu205fs) | Congenital secretory diarrhea, chloride type [RCV004563871]|SLC26A3-related disorder [RCV003405630]|not provided [RCV001383592] | pathogenic | 7 | 107789645 | 107789645 | Human | 1 | name , trait , alternate_id |
| 151792471 | CV1351100 | single nucleotide variant | NM_000111.3(SLC26A3):c.167C>T (p.Ser56Phe) | not provided [RCV001990207] | uncertain significance | 7 | 107793846 | 107793846 | Human | | name |
| 151792389 | CV1399337 | single nucleotide variant | NM_000111.3(SLC26A3):c.179T>G (p.Ile60Arg) | not provided [RCV001898299] | uncertain significance | 7 | 107793834 | 107793834 | Human | | name |
| 151772191 | CV1416922 | single nucleotide variant | NM_000111.3(SLC26A3):c.170T>C (p.Leu57Ser) | not provided [RCV001971291] | uncertain significance | 7 | 107793843 | 107793843 | Human | | name |
| 151873745 | CV1429930 | single nucleotide variant | NM_000111.3(SLC26A3):c.137C>A (p.Ser46Tyr) | Inborn genetic diseases [RCV002579514]|not provided [RCV001998677] | uncertain significance | 7 | 107793876 | 107793876 | Human | 1 | name |
| 151771467 | CV1451701 | single nucleotide variant | NM_000111.3(SLC26A3):c.157A>T (p.Ile53Phe) | not provided [RCV001988278] | uncertain significance | 7 | 107793856 | 107793856 | Human | | name |
| 151849503 | CV1451938 | single nucleotide variant | NM_000111.3(SLC26A3):c.147G>T (p.Lys49Asn) | Inborn genetic diseases [RCV002548128]|not provided [RCV002016382] | uncertain significance | 7 | 107793866 | 107793866 | Human | 1 | name |
| 151718504 | CV1458706 | single nucleotide variant | NM_000111.3(SLC26A3):c.128G>A (p.Cys43Tyr) | not provided [RCV002003298] | uncertain significance | 7 | 107794382 | 107794382 | Human | | name |
| 151725178 | CV1462057 | single nucleotide variant | NM_000111.3(SLC26A3):c.164T>G (p.Leu55Arg) | not provided [RCV001966497] | uncertain significance | 7 | 107793849 | 107793849 | Human | | name |
| 151812197 | CV1497960 | single nucleotide variant | NM_000111.3(SLC26A3):c.2193T>C (p.Phe731=) | not provided [RCV001953936] | likely benign | 7 | 107767778 | 107767778 | Human | | name |
| 151721320 | CV1504689 | single nucleotide variant | NM_000111.3(SLC26A3):c.193C>G (p.Pro65Ala) | not provided [RCV001983121] | uncertain significance | 7 | 107793820 | 107793820 | Human | | name |
| 152082709 | CV1526236 | single nucleotide variant | NM_000111.3(SLC26A3):c.1696C>A (p.Arg566=) | not provided [RCV002170749] | likely benign | 7 | 107774854 | 107774854 | Human | | name |
| 152175698 | CV1527087 | single nucleotide variant | NM_000111.3(SLC26A3):c.1452C>T (p.Leu484=) | not provided [RCV002163834] | likely benign | 7 | 107778237 | 107778237 | Human | | name |
| 152110185 | CV1530184 | single nucleotide variant | NM_000111.3(SLC26A3):c.2004A>G (p.Lys668=) | not provided [RCV002196665] | likely benign | 7 | 107773923 | 107773923 | Human | | name |
| 152167068 | CV1534831 | single nucleotide variant | NM_000111.3(SLC26A3):c.1068A>T (p.Ser356=) | not provided [RCV002160778] | likely benign | 7 | 107783256 | 107783256 | Human | | name |
| 152168212 | CV1547916 | single nucleotide variant | NM_000111.3(SLC26A3):c.1167A>G (p.Arg389=) | not provided [RCV002161056] | likely benign | 7 | 107783046 | 107783046 | Human | | name |
| 152062842 | CV1563383 | single nucleotide variant | NM_000111.3(SLC26A3):c.1320G>C (p.Leu440=) | not provided [RCV002190739] | likely benign | 7 | 107779755 | 107779755 | Human | | name |
| 152030156 | CV1566037 | single nucleotide variant | NM_000111.3(SLC26A3):c.2184T>G (p.Thr728=) | not provided [RCV002086049] | likely benign | 7 | 107767787 | 107767787 | Human | | name |
| 152057648 | CV1567355 | single nucleotide variant | NM_000111.3(SLC26A3):c.1333T>C (p.Leu445=) | not provided [RCV002146421] | likely benign | 7 | 107779742 | 107779742 | Human | | name |
| 152113378 | CV1573470 | single nucleotide variant | NM_000111.3(SLC26A3):c.1878T>G (p.Pro626=) | not provided [RCV002215799] | likely benign | 7 | 107774049 | 107774049 | Human | | name |
| 152125252 | CV1580701 | single nucleotide variant | NM_000111.3(SLC26A3):c.1623A>G (p.Pro541=) | SLC26A3-related disorder [RCV003970999]|not provided [RCV002082121] | likely benign | 7 | 107776506 | 107776506 | Human | 1 | name , trait , alternate_id |
| 152127828 | CV1583675 | single nucleotide variant | NM_000111.3(SLC26A3):c.2049C>T (p.Ile683=) | not provided [RCV002198920] | likely benign | 7 | 107772067 | 107772067 | Human | | name |
| 152073833 | CV1599112 | single nucleotide variant | NM_000111.3(SLC26A3):c.1671C>T (p.Ile557=) | not provided [RCV002148442] | likely benign | 7 | 107776458 | 107776458 | Human | | name |
| 152106187 | CV1605115 | single nucleotide variant | NM_000111.3(SLC26A3):c.1815C>T (p.Asp605=) | not provided [RCV002196179] | likely benign | 7 | 107774112 | 107774112 | Human | | name |
| 152149484 | CV1616820 | single nucleotide variant | NM_000111.3(SLC26A3):c.1857A>G (p.Pro619=) | not provided [RCV002201746] | likely benign | 7 | 107774070 | 107774070 | Human | | name |
| 152084586 | CV1617084 | single nucleotide variant | NM_000111.3(SLC26A3):c.1905T>C (p.Leu635=) | SLC26A3-related disorder [RCV003913515]|not provided [RCV002076816] | likely benign | 7 | 107774022 | 107774022 | Human | 1 | name , trait , alternate_id |
| 152093539 | CV1625919 | single nucleotide variant | NM_000111.3(SLC26A3):c.1531C>T (p.Leu511=) | not provided [RCV002150898] | likely benign | 7 | 107776690 | 107776690 | Human | | name |
| 152025767 | CV1627544 | single nucleotide variant | NM_000111.3(SLC26A3):c.1530G>A (p.Thr510=) | not provided [RCV002104323] | likely benign | 7 | 107776691 | 107776691 | Human | | name |
| 152098442 | CV1639891 | single nucleotide variant | NM_000111.3(SLC26A3):c.1572A>G (p.Lys524=) | not provided [RCV002078665] | likely benign | 7 | 107776649 | 107776649 | Human | | name |
| 152112657 | CV1640635 | single nucleotide variant | NM_000111.3(SLC26A3):c.1017C>T (p.Thr339=) | not provided [RCV002174529] | likely benign | 7 | 107783307 | 107783307 | Human | | name |
| 152039990 | CV1644508 | single nucleotide variant | NM_000111.3(SLC26A3):c.1896T>C (p.Asn632=) | not provided [RCV002165543] | likely benign | 7 | 107774031 | 107774031 | Human | | name |
| 152116121 | CV1653719 | single nucleotide variant | NM_000111.3(SLC26A3):c.1320G>A (p.Leu440=) | not provided [RCV002153675] | likely benign | 7 | 107779755 | 107779755 | Human | | name |
| 155715710 | CV1774134 | single nucleotide variant | NM_000111.3(SLC26A3):c.196G>T (p.Ala66Ser) | not provided [RCV002296411] | uncertain significance | 7 | 107793817 | 107793817 | Human | | name |
| 156140575 | CV1898502 | single nucleotide variant | NM_000111.3(SLC26A3):c.1257C>T (p.Ile419=) | not provided [RCV003082185] | likely benign | 7 | 107782851 | 107782851 | Human | | name |
| 156046007 | CV1927105 | single nucleotide variant | NM_000111.3(SLC26A3):c.1272C>T (p.Val424=) | not provided [RCV002637760] | likely benign | 7 | 107782836 | 107782836 | Human | | name |
| 156447215 | CV1944858 | single nucleotide variant | NM_000111.3(SLC26A3):c.1683C>G (p.Gly561=) | SLC26A3-related disorder [RCV003928947]|not provided [RCV003118742] | likely benign | 7 | 107774867 | 107774867 | Human | 1 | name , trait , alternate_id |
| 156348464 | CV1970694 | single nucleotide variant | NM_000111.3(SLC26A3):c.1131C>T (p.Ala377=) | not provided [RCV002601650] | likely benign | 7 | 107783082 | 107783082 | Human | | name |
| 156290271 | CV2001787 | single nucleotide variant | NM_000111.3(SLC26A3):c.277G>A (p.Ala93Thr) | Inborn genetic diseases [RCV004966024]|not provided [RCV002670738] | uncertain significance | 7 | 107791935 | 107791935 | Human | 1 | name |
| 156303180 | CV2003533 | single nucleotide variant | NM_000111.3(SLC26A3):c.1741C>T (p.Leu581=) | not provided [RCV002671255] | likely benign | 7 | 107774809 | 107774809 | Human | | name |
| 156370316 | CV2007678 | single nucleotide variant | NM_000111.3(SLC26A3):c.1824G>C (p.Leu608=) | not provided [RCV002676848] | likely benign | 7 | 107774103 | 107774103 | Human | | name |
| 156260788 | CV2033961 | single nucleotide variant | NM_000111.3(SLC26A3):c.296A>C (p.Asp99Ala) | not provided [RCV002746301] | uncertain significance | 7 | 107791916 | 107791916 | Human | | name |
| 156011500 | CV2039256 | single nucleotide variant | NM_000111.3(SLC26A3):c.2043G>C (p.Val681=) | not provided [RCV002756709] | likely benign | 7 | 107772073 | 107772073 | Human | | name |
| 156088632 | CV2056848 | single nucleotide variant | NM_000111.3(SLC26A3):c.1281C>T (p.Ala427=) | not provided [RCV002824101] | likely benign | 7 | 107782827 | 107782827 | Human | | name |
| 156233334 | CV2075116 | single nucleotide variant | NM_000111.3(SLC26A3):c.1755C>T (p.Gly585=) | not provided [RCV002830134] | uncertain significance | 7 | 107774795 | 107774795 | Human | | name |
| 156036986 | CV2143256 | single nucleotide variant | NM_000111.3(SLC26A3):c.1846C>T (p.Leu616=) | not provided [RCV002999371] | benign | 7 | 107774081 | 107774081 | Human | | name |
| 156214952 | CV2176548 | single nucleotide variant | NM_000111.3(SLC26A3):c.1440T>A (p.Ile480=) | not provided [RCV003024960] | likely benign | 7 | 107778249 | 107778249 | Human | | name |
| 156097321 | CV2183646 | single nucleotide variant | NM_000111.3(SLC26A3):c.1444C>T (p.Leu482=) | not provided [RCV003054590] | likely benign | 7 | 107778245 | 107778245 | Human | | name |
| 156042834 | CV2188067 | single nucleotide variant | NM_000111.3(SLC26A3):c.1986T>G (p.Ser662=) | not provided [RCV003036636] | likely benign | 7 | 107773941 | 107773941 | Human | | name |
| 156301158 | CV2189473 | single nucleotide variant | NM_000111.3(SLC26A3):c.120A>T (p.Lys40Asn) | not provided [RCV003061969] | uncertain significance | 7 | 107794390 | 107794390 | Human | | name |
| 156236366 | CV2224117 | single nucleotide variant | NM_000111.3(SLC26A3):c.152A>G (p.Lys51Arg) | Inborn genetic diseases [RCV002713092] | uncertain significance | 7 | 107793861 | 107793861 | Human | 1 | name |
| 405201410 | CV2861310 | single nucleotide variant | NM_000111.3(SLC26A3):c.254T>C (p.Ile85Thr) | not provided [RCV003551422] | uncertain significance | 7 | 107793759 | 107793759 | Human | | name |
| 405203160 | CV2861365 | single nucleotide variant | NM_000111.3(SLC26A3):c.1155T>C (p.Cys385=) | not provided [RCV003551454] | likely benign | 7 | 107783058 | 107783058 | Human | | name |
| 405196217 | CV2868897 | single nucleotide variant | NM_000111.3(SLC26A3):c.2076G>A (p.Glu692=) | not provided [RCV003550859] | likely benign | 7 | 107767895 | 107767895 | Human | | name |
| 405077770 | CV2869690 | single nucleotide variant | NM_000111.3(SLC26A3):c.1737A>C (p.Arg579=) | not provided [RCV003548928] | likely benign | 7 | 107774813 | 107774813 | Human | | name |
| 405198703 | CV2876820 | single nucleotide variant | NM_000111.3(SLC26A3):c.1542T>C (p.Ile514=) | not provided [RCV003551163] | likely benign | 7 | 107776679 | 107776679 | Human | | name |
| 405211798 | CV2878487 | single nucleotide variant | NM_000111.3(SLC26A3):c.1113C>T (p.Gly371=) | not provided [RCV003552706] | likely benign | 7 | 107783211 | 107783211 | Human | | name |
| 405129342 | CV2893294 | single nucleotide variant | NM_000111.3(SLC26A3):c.1038C>T (p.Ile346=) | not provided [RCV003559790] | likely benign | 7 | 107783286 | 107783286 | Human | | name |
| 405154519 | CV2894108 | single nucleotide variant | NM_000111.3(SLC26A3):c.118A>T (p.Lys40Ter) | not provided [RCV003561902] | pathogenic | 7 | 107794392 | 107794392 | Human | | name |
| 405199229 | CV2901222 | deletion | NM_000111.3(SLC26A3):c.594del (p.Ile198fs) | not provided [RCV003565776] | pathogenic | 7 | 107789665 | 107789665 | Human | | name |
| 405137332 | CV2907007 | single nucleotide variant | NM_000111.3(SLC26A3):c.1140G>A (p.Leu380=) | not provided [RCV003560485] | likely benign | 7 | 107783073 | 107783073 | Human | | name |
| 405008206 | CV2926867 | single nucleotide variant | NM_000111.3(SLC26A3):c.1287A>T (p.Gly429=) | not provided [RCV003576511] | likely benign | 7 | 107782821 | 107782821 | Human | | name |
| 405063170 | CV2927186 | single nucleotide variant | NM_000111.3(SLC26A3):c.1983T>C (p.Val661=) | not provided [RCV003580624] | likely benign | 7 | 107773944 | 107773944 | Human | | name |
| 405010511 | CV2933577 | single nucleotide variant | NM_000111.3(SLC26A3):c.2184T>A (p.Thr728=) | not provided [RCV003576693] | likely benign | 7 | 107767787 | 107767787 | Human | | name |
| 402483006 | CV2937541 | single nucleotide variant | NM_000111.3(SLC26A3):c.1032C>T (p.Phe344=) | not provided [RCV003659816] | likely benign | 7 | 107783292 | 107783292 | Human | | name |
| 402503662 | CV2937808 | single nucleotide variant | NM_000111.3(SLC26A3):c.2175T>C (p.Asp725=) | not provided [RCV003661839] | likely benign | 7 | 107767796 | 107767796 | Human | | name |
| 405063925 | CV2939833 | single nucleotide variant | NM_000111.3(SLC26A3):c.2112G>T (p.Val704=) | not provided [RCV003658985] | likely benign | 7 | 107767859 | 107767859 | Human | | name |
| 402523903 | CV2940418 | single nucleotide variant | NM_000111.3(SLC26A3):c.1260C>T (p.Ile420=) | not provided [RCV003663510] | likely benign | 7 | 107782848 | 107782848 | Human | | name |
| 402487570 | CV2941455 | deletion | NM_000111.3(SLC26A3):c.23_24del (p.Gln8fs) | not provided [RCV003660228] | pathogenic | 7 | 107794486 | 107794487 | Human | | name |
| 405077032 | CV2948605 | single nucleotide variant | NM_000111.3(SLC26A3):c.1551C>G (p.Thr517=) | not provided [RCV003664262] | likely benign | 7 | 107776670 | 107776670 | Human | | name |
| 405118418 | CV2949778 | single nucleotide variant | NM_000111.3(SLC26A3):c.2019A>G (p.Glu673=) | not provided [RCV003667175] | likely benign | 7 | 107772097 | 107772097 | Human | | name |
| 405136513 | CV2958178 | single nucleotide variant | NM_000111.3(SLC26A3):c.2289A>G (p.Lys763=) | not provided [RCV003672861] | likely benign | 7 | 107765861 | 107765861 | Human | | name |
| 405147277 | CV2960067 | single nucleotide variant | NM_000111.3(SLC26A3):c.1489C>T (p.Leu497=) | not provided [RCV003669790] | likely benign | 7 | 107778200 | 107778200 | Human | | name |
| 405140839 | CV2962013 | single nucleotide variant | NM_000111.3(SLC26A3):c.2145T>C (p.Asp715=) | not provided [RCV003673208] | likely benign | 7 | 107767826 | 107767826 | Human | | name |
| 405245554 | CV2969256 | single nucleotide variant | NM_000111.3(SLC26A3):c.1326T>C (p.Ala442=) | not provided [RCV003685200] | likely benign | 7 | 107779749 | 107779749 | Human | | name |
| 405241222 | CV2970699 | single nucleotide variant | NM_000111.3(SLC26A3):c.1113C>A (p.Gly371=) | not provided [RCV003684084] | likely benign | 7 | 107783211 | 107783211 | Human | | name |
| 405187824 | CV2977678 | single nucleotide variant | NM_000111.3(SLC26A3):c.1275T>G (p.Val425=) | not provided [RCV003706161] | likely benign | 7 | 107782833 | 107782833 | Human | | name |
| 405239553 | CV2979846 | single nucleotide variant | NM_000111.3(SLC26A3):c.2034G>A (p.Lys678=) | not provided [RCV003683750] | likely benign | 7 | 107772082 | 107772082 | Human | | name |
| 402496429 | CV2988697 | single nucleotide variant | NM_000111.3(SLC26A3):c.2043G>A (p.Val681=) | not provided [RCV003714304] | likely benign | 7 | 107772073 | 107772073 | Human | | name |
| 404989593 | CV2998703 | single nucleotide variant | NM_000111.3(SLC26A3):c.1914C>T (p.Asn638=) | not provided [RCV003692159] | likely benign | 7 | 107774013 | 107774013 | Human | | name |
| 402516102 | CV3003124 | single nucleotide variant | NM_000111.3(SLC26A3):c.2274G>T (p.Val758=) | not provided [RCV003716079] | likely benign | 7 | 107765876 | 107765876 | Human | | name |
| 405241793 | CV3004708 | single nucleotide variant | NM_000111.3(SLC26A3):c.1260C>A (p.Ile420=) | not provided [RCV003719250] | likely benign | 7 | 107782848 | 107782848 | Human | | name |
| 405129809 | CV3010823 | single nucleotide variant | NM_000111.3(SLC26A3):c.1902T>C (p.Asp634=) | not provided [RCV003701572] | likely benign | 7 | 107774025 | 107774025 | Human | | name |
| 405039284 | CV3013579 | single nucleotide variant | NM_000111.3(SLC26A3):c.1566T>C (p.Asn522=) | not provided [RCV003696196] | likely benign | 7 | 107776655 | 107776655 | Human | | name |
| 402524602 | CV3015123 | single nucleotide variant | NM_000111.3(SLC26A3):c.1923C>T (p.Val641=) | not provided [RCV003690548] | likely benign | 7 | 107774004 | 107774004 | Human | | name |
| 402497431 | CV3015728 | single nucleotide variant | NM_000111.3(SLC26A3):c.1074C>T (p.Ala358=) | not provided [RCV003688149] | likely benign | 7 | 107783250 | 107783250 | Human | | name |
| 402499213 | CV3016096 | single nucleotide variant | NM_000111.3(SLC26A3):c.1800C>T (p.Thr600=) | not provided [RCV003688318] | likely benign | 7 | 107774127 | 107774127 | Human | | name |
| 405126026 | CV3017296 | single nucleotide variant | NM_000111.3(SLC26A3):c.1767G>A (p.Val589=) | not provided [RCV003701244] | likely benign | 7 | 107774783 | 107774783 | Human | | name |
| 405116728 | CV3020222 | single nucleotide variant | NM_000111.3(SLC26A3):c.1569A>G (p.Lys523=) | not provided [RCV003700319] | likely benign | 7 | 107776652 | 107776652 | Human | | name |
| 405090952 | CV3021797 | single nucleotide variant | NM_000111.3(SLC26A3):c.1176T>A (p.Ala392=) | not provided [RCV003699730] | likely benign | 7 | 107783037 | 107783037 | Human | | name |
| 405147779 | CV3024160 | single nucleotide variant | NM_000111.3(SLC26A3):c.1170A>T (p.Gly390=) | not provided [RCV003703063] | likely benign | 7 | 107783043 | 107783043 | Human | | name |
| 405140792 | CV3026230 | duplication | NM_000111.3(SLC26A3):c.332dup (p.Ala113fs) | not provided [RCV003702487] | pathogenic | 7 | 107791879 | 107791880 | Human | | name |
| 405119189 | CV3030633 | single nucleotide variant | NM_000111.3(SLC26A3):c.1110T>C (p.Asp370=) | not provided [RCV003700571] | likely benign | 7 | 107783214 | 107783214 | Human | | name |
| 405066722 | CV3030853 | single nucleotide variant | NM_000111.3(SLC26A3):c.1332A>G (p.Ala444=) | not provided [RCV003698071] | likely benign | 7 | 107779743 | 107779743 | Human | | name |
| 405246178 | CV3047977 | single nucleotide variant | NM_000111.3(SLC26A3):c.1276C>T (p.Leu426=) | not provided [RCV003720483] | likely benign | 7 | 107782832 | 107782832 | Human | | name |
| 405245717 | CV3051662 | single nucleotide variant | NM_000111.3(SLC26A3):c.1581T>C (p.Tyr527=) | not provided [RCV003720379] | likely benign | 7 | 107776640 | 107776640 | Human | | name |
| 405142840 | CV3056048 | single nucleotide variant | NM_000111.3(SLC26A3):c.1911C>T (p.Leu637=) | not provided [RCV003725803] | likely benign | 7 | 107774016 | 107774016 | Human | | name |
| 405207064 | CV3064460 | deletion | NM_000111.3(SLC26A3):c.958del (p.Asp320fs) | not provided [RCV003731446] | pathogenic | 7 | 107786840 | 107786840 | Human | | name |
| 405035439 | CV3072606 | single nucleotide variant | NM_000111.3(SLC26A3):c.1812T>C (p.Ser604=) | not provided [RCV003739478] | likely benign | 7 | 107774115 | 107774115 | Human | | name |
| 405230866 | CV3073319 | single nucleotide variant | NM_000111.3(SLC26A3):c.1026T>C (p.Asp342=) | not provided [RCV003734834] | likely benign | 7 | 107783298 | 107783298 | Human | | name |
| 11611175 | CV309313 | single nucleotide variant | NM_000111.3(SLC26A3):c.1953T>C (p.Leu651=) | Congenital secretory diarrhea, chloride type [RCV000391222]|not provided [RCV001522407]|not specified [RCV001528634] | benign | 7 | 107773974 | 107773974 | Human | 1 | name |
| 11605008 | CV309333 | single nucleotide variant | NM_000111.3(SLC26A3):c.1299G>A (p.Ala433=) | Congenital secretory diarrhea, chloride type [RCV000314738]|not provided [RCV001519919] | benign | 7 | 107782809 | 107782809 | Human | 1 | name |
| 11608222 | CV309357 | single nucleotide variant | NM_000111.3(SLC26A3):c.203G>A (p.Arg68Gln) | Congenital secretory diarrhea, chloride type [RCV000352537]|SLC26A3-related disorder [RCV003912533]|not provided [RCV000947057] | benign|likely benign | 7 | 107793810 | 107793810 | Human | 1 | name , trait , alternate_id |
| 11601003 | CV309486 | single nucleotide variant | NM_000111.3(SLC26A3):c.241A>G (p.Ile81Val) | Congenital secretory diarrhea, chloride type [RCV000278855]|not provided [RCV000958956] | benign|likely benign | 7 | 107793772 | 107793772 | Human | 1 | name |
| 405119555 | CV3116170 | single nucleotide variant | NM_000111.3(SLC26A3):c.1200A>T (p.Ser400=) | not provided [RCV003814660] | likely benign | 7 | 107783013 | 107783013 | Human | | name |
| 405004538 | CV3120771 | single nucleotide variant | NM_000111.3(SLC26A3):c.1401T>C (p.Tyr467=) | not provided [RCV003828374] | likely benign | 7 | 107779674 | 107779674 | Human | | name |
| 405172122 | CV3122808 | single nucleotide variant | NM_000111.3(SLC26A3):c.1935C>T (p.Ser645=) | not provided [RCV003819206] | likely benign | 7 | 107773992 | 107773992 | Human | | name |
| 405195106 | CV3128650 | single nucleotide variant | NM_000111.3(SLC26A3):c.1593G>A (p.Glu531=) | not provided [RCV003821388] | likely benign | 7 | 107776536 | 107776536 | Human | | name |
| 405197788 | CV3132088 | single nucleotide variant | NM_000111.3(SLC26A3):c.2100T>C (p.Phe700=) | not provided [RCV003821681] | likely benign | 7 | 107767871 | 107767871 | Human | | name |
| 405215206 | CV3143225 | single nucleotide variant | NM_000111.3(SLC26A3):c.1194C>A (p.Ser398=) | not provided [RCV003846388] | likely benign | 7 | 107783019 | 107783019 | Human | | name |
| 405211543 | CV3146363 | single nucleotide variant | NM_000111.3(SLC26A3):c.1653C>T (p.Phe551=) | not provided [RCV003845894] | likely benign | 7 | 107776476 | 107776476 | Human | | name |
| 405054394 | CV3151402 | single nucleotide variant | NM_000111.3(SLC26A3):c.1077C>T (p.Ser359=) | not provided [RCV003849811] | likely benign | 7 | 107783247 | 107783247 | Human | | name |
| 405166495 | CV3160588 | single nucleotide variant | NM_000111.3(SLC26A3):c.1947C>T (p.Leu649=) | not provided [RCV003857468] | likely benign | 7 | 107773980 | 107773980 | Human | | name |
| 405209655 | CV3162622 | single nucleotide variant | NM_000111.3(SLC26A3):c.1500G>A (p.Val500=) | not provided [RCV003861921] | likely benign | 7 | 107778189 | 107778189 | Human | | name |
| 405238909 | CV3165795 | single nucleotide variant | NM_000111.3(SLC26A3):c.2229T>C (p.Phe743=) | not provided [RCV003866807] | likely benign | 7 | 107767621 | 107767621 | Human | | name |
| 405236565 | CV3166504 | deletion | NM_000111.3(SLC26A3):c.-3_13del (p.Met1fs) | Congenital secretory diarrhea, chloride type [RCV005038583]|not provided [RCV003853953] | pathogenic|likely pathogenic | 7 | 107794497 | 107794512 | Human | 1 | name |
| 405238299 | CV3167059 | single nucleotide variant | NM_000111.3(SLC26A3):c.1419C>T (p.Ile473=) | not provided [RCV003854314] | likely benign | 7 | 107778270 | 107778270 | Human | | name |
| 405234465 | CV3168430 | single nucleotide variant | NM_000111.3(SLC26A3):c.1797C>T (p.Asp599=) | not provided [RCV003865904] | likely benign | 7 | 107774130 | 107774130 | Human | | name |
| 402466309 | CV3173580 | single nucleotide variant | NM_000111.3(SLC26A3):c.1770A>C (p.Thr590=) | not provided [RCV003873054] | likely benign | 7 | 107774780 | 107774780 | Human | | name |
| 405241033 | CV3176859 | single nucleotide variant | NM_000111.3(SLC26A3):c.1668T>C (p.Leu556=) | not provided [RCV003867297] | likely benign | 7 | 107776461 | 107776461 | Human | | name |
| 402512348 | CV3178454 | single nucleotide variant | NM_000111.3(SLC26A3):c.1095C>T (p.Tyr365=) | not provided [RCV003879071] | likely benign | 7 | 107783229 | 107783229 | Human | | name |
| 8565818 | CV31796 | deletion | NM_000111.3(SLC26A3):c.735+708_971+1514del | Congenital secretory diarrhea, chloride type [RCV000018242] | pathogenic | 7 | 107785313 | 107788816 | Human | 1 | name |
| 405869519 | CV3396777 | deletion | NM_000111.3(SLC26A3):c.670del (p.Ser224fs) | Congenital secretory diarrhea, chloride type [RCV004566658] | likely pathogenic | 7 | 107789589 | 107789589 | Human | 1 | name |
| 405867997 | CV3401383 | single nucleotide variant | NM_000111.3(SLC26A3):c.202C>T (p.Arg68Trp) | Congenital secretory diarrhea, chloride type [RCV004577692] | uncertain significance | 7 | 107793811 | 107793811 | Human | 1 | name |
| 596945878 | CV3550274 | deletion | NM_000111.3(SLC26A3):c.575del (p.Ala192fs) | Congenital secretory diarrhea, chloride type [RCV004818812] | likely pathogenic | 7 | 107789684 | 107789684 | Human | 1 | name |
| 597639724 | CV3606498 | single nucleotide variant | NM_000111.3(SLC26A3):c.151A>G (p.Lys51Glu) | Inborn genetic diseases [RCV004971295] | uncertain significance | 7 | 107793862 | 107793862 | Human | 1 | name |
| 597701278 | CV3718763 | duplication | NM_000111.3(SLC26A3):c.526dup (p.Val176fs) | Congenital secretory diarrhea, chloride type [RCV005033534] | likely pathogenic | 7 | 107791091 | 107791092 | Human | 1 | name |
| 597845107 | CV3736241 | single nucleotide variant | NM_000111.3(SLC26A3):c.142C>G (p.Gln48Glu) | not provided [RCV005065589] | uncertain significance | 7 | 107793871 | 107793871 | Human | | name |
| 597834526 | CV3739514 | single nucleotide variant | NM_000111.3(SLC26A3):c.1761A>G (p.Leu587=) | not provided [RCV005063733] | likely benign | 7 | 107774789 | 107774789 | Human | | name |
| 597928483 | CV3749142 | single nucleotide variant | NM_000111.3(SLC26A3):c.1920G>A (p.Glu640=) | not provided [RCV005075598] | likely benign | 7 | 107774007 | 107774007 | Human | | name |
| 597939656 | CV3756837 | single nucleotide variant | NM_000111.3(SLC26A3):c.1080C>G (p.Val360=) | not provided [RCV005077218] | likely benign | 7 | 107783244 | 107783244 | Human | | name |
| 597870095 | CV3768117 | single nucleotide variant | NM_000111.3(SLC26A3):c.1899T>C (p.Asp633=) | not provided [RCV005122496] | likely benign | 7 | 107774028 | 107774028 | Human | | name |
| 597939741 | CV3775387 | single nucleotide variant | NM_000111.3(SLC26A3):c.2118C>T (p.Ser706=) | not provided [RCV005118213] | likely benign | 7 | 107767853 | 107767853 | Human | | name |
| 597880238 | CV3783596 | single nucleotide variant | NM_000111.3(SLC26A3):c.1521A>G (p.Lys507=) | not provided [RCV005124092] | likely benign | 7 | 107776700 | 107776700 | Human | | name |
| 597928671 | CV3788849 | single nucleotide variant | NM_000111.3(SLC26A3):c.1440T>C (p.Ile480=) | not provided [RCV005131328] | likely benign | 7 | 107778249 | 107778249 | Human | | name |
| 597955875 | CV3796341 | single nucleotide variant | NM_000111.3(SLC26A3):c.1716C>T (p.Asn572=) | not provided [RCV005137159] | likely benign | 7 | 107774834 | 107774834 | Human | | name |
| 597852744 | CV3805720 | single nucleotide variant | NM_000111.3(SLC26A3):c.2115A>G (p.Lys705=) | not provided [RCV005145650] | likely benign | 7 | 107767856 | 107767856 | Human | | name |
| 597842687 | CV3831067 | single nucleotide variant | NM_000111.3(SLC26A3):c.1872C>T (p.Asp624=) | not provided [RCV005172448] | likely benign | 7 | 107774055 | 107774055 | Human | | name |
| 597889343 | CV3856079 | single nucleotide variant | NM_000111.3(SLC26A3):c.1296G>A (p.Leu432=) | not provided [RCV005200324] | likely benign | 7 | 107782812 | 107782812 | Human | | name |
| 8616733 | CV70634 | deletion | NM_000111.3(SLC26A3):c.332del (p.Phe111fs) | Congenital secretory diarrhea, chloride type [RCV000049404] | likely pathogenic | 7 | 107791880 | 107791880 | Human | 1 | name |
| 8616734 | CV70635 | deletion | NM_000111.3(SLC26A3):c.344del (p.Ile115fs) | Congenital secretory diarrhea, chloride type [RCV000049405]|not provided [RCV002513682] | pathogenic|likely pathogenic | 7 | 107791868 | 107791868 | Human | 1 | name |
| 8616739 | CV70640 | deletion | NM_000111.3(SLC26A3):c.392del (p.Pro131fs) | Congenital secretory diarrhea, chloride type [RCV000049410] | likely pathogenic | 7 | 107791226 | 107791226 | Human | 1 | name |
| 15171239 | CV710695 | single nucleotide variant | NM_000111.3(SLC26A3):c.1314C>T (p.Ser438=) | Congenital secretory diarrhea, chloride type [RCV001161859]|SLC26A3-related disorder [RCV003928529]|not provided [RCV000972158] | benign|likely benign | 7 | 107779761 | 107779761 | Human | 1 | name , trait , alternate_id |
| 15147973 | CV735863 | single nucleotide variant | NM_000111.3(SLC26A3):c.1185T>C (p.Thr395=) | not provided [RCV000900627] | benign | 7 | 107783028 | 107783028 | Human | | name |
| 15175362 | CV765982 | single nucleotide variant | NM_000111.3(SLC26A3):c.1455G>A (p.Gly485=) | not provided [RCV000928656] | likely benign | 7 | 107778234 | 107778234 | Human | | name |
| 8626304 | CV81448 | single nucleotide variant | NM_000111.3(SLC26A3):c.1188C>T (p.Ala396=) | not provided [RCV003701816] | likely benign|not provided | 7 | 107783025 | 107783025 | Human | | name |
| 28905850 | CV897220 | single nucleotide variant | NM_000111.3(SLC26A3):c.1482T>C (p.Phe494=) | Congenital secretory diarrhea, chloride type [RCV001158652] | uncertain significance | 7 | 107778207 | 107778207 | Human | 1 | name |
| 28906070 | CV897228 | single nucleotide variant | NM_000111.3(SLC26A3):c.295G>A (p.Asp99Asn) | Congenital secretory diarrhea, chloride type [RCV001158761]|Inborn genetic diseases [RCV004032836]|not provided [RCV002032469] | likely benign|uncertain significance | 7 | 107791917 | 107791917 | Human | 2 | name |
| 126736602 | CV1020326 | deletion | NM_000111.3(SLC26A3):c.*1_*3del (p.Ter765=) | Congenital secretory diarrhea, chloride type [RCV001335118] | pathogenic | 7 | 107765852 | 107765854 | Human | | name |
| 127263667 | CV1060960 | deletion | NM_000111.3(SLC26A3):c.1414del (p.Trp472fs) | not provided [RCV001388011] | pathogenic | 7 | 107778275 | 107778275 | Human | | name |
| 127275419 | CV1095841 | single nucleotide variant | NM_000111.3(SLC26A3):c.530C>T (p.Ala177Val) | SLC26A3-related disorder [RCV004751984]|not provided [RCV001443318] | likely benign | 7 | 107791088 | 107791088 | Human | 1 | name , trait , alternate_id |
| 150556359 | CV1303031 | deletion | NM_000111.3(SLC26A3):c.2211del (p.Asp738fs) | not provided [RCV001774224] | uncertain significance | 7 | 107767639 | 107767639 | Human | | name |
| 151890863 | CV1346799 | single nucleotide variant | NM_000111.3(SLC26A3):c.430G>A (p.Ala144Thr) | not provided [RCV002038927] | uncertain significance | 7 | 107791188 | 107791188 | Human | | name |
| 151822061 | CV1351156 | single nucleotide variant | NM_000111.3(SLC26A3):c.386C>G (p.Pro129Arg) | not provided [RCV001992874] | uncertain significance | 7 | 107791232 | 107791232 | Human | | name |
| 151854768 | CV1353791 | single nucleotide variant | NM_000111.3(SLC26A3):c.427G>C (p.Gly143Arg) | not provided [RCV001979389] | uncertain significance | 7 | 107791191 | 107791191 | Human | | name |
| 151844365 | CV1363436 | single nucleotide variant | NM_000111.3(SLC26A3):c.887T>C (p.Met296Thr) | Inborn genetic diseases [RCV002551224]|not provided [RCV002032210] | uncertain significance | 7 | 107787358 | 107787358 | Human | 1 | name |
| 151886228 | CV1367325 | single nucleotide variant | NM_000111.3(SLC26A3):c.311A>G (p.Tyr104Cys) | Inborn genetic diseases [RCV004042464]|not provided [RCV002000642] | uncertain significance | 7 | 107791901 | 107791901 | Human | 1 | name |
| 151875769 | CV1376286 | single nucleotide variant | NM_000111.3(SLC26A3):c.536C>T (p.Ala179Val) | not provided [RCV002019516] | uncertain significance | 7 | 107791082 | 107791082 | Human | | name |
| 151789545 | CV1377208 | single nucleotide variant | NM_000111.3(SLC26A3):c.304C>T (p.Pro102Ser) | not provided [RCV001898043] | uncertain significance | 7 | 107791908 | 107791908 | Human | | name |
| 151887364 | CV1386256 | single nucleotide variant | NM_000111.3(SLC26A3):c.916G>A (p.Gly306Ser) | not provided [RCV001942372] | uncertain significance | 7 | 107786882 | 107786882 | Human | | name |
| 151818127 | CV1390499 | single nucleotide variant | NM_000111.3(SLC26A3):c.849A>C (p.Lys283Asn) | Inborn genetic diseases [RCV002557798]|not provided [RCV001954484] | uncertain significance | 7 | 107787396 | 107787396 | Human | 1 | name |
| 151715762 | CV1392822 | single nucleotide variant | NM_000111.3(SLC26A3):c.685A>T (p.Ile229Phe) | not provided [RCV001908934] | uncertain significance | 7 | 107789574 | 107789574 | Human | | name |
| 151877293 | CV1395455 | single nucleotide variant | NM_000111.3(SLC26A3):c.755C>T (p.Ser252Leu) | not provided [RCV002019692] | uncertain significance | 7 | 107787490 | 107787490 | Human | | name |
| 151823625 | CV1397769 | single nucleotide variant | NM_000111.3(SLC26A3):c.548C>T (p.Thr183Ile) | SLC26A3-related disorder [RCV003978449]|not provided [RCV001975985] | uncertain significance | 7 | 107791070 | 107791070 | Human | 1 | name , trait , alternate_id |
| 151845002 | CV1420301 | single nucleotide variant | NM_000111.3(SLC26A3):c.692A>C (p.Gln231Pro) | not provided [RCV001978160] | uncertain significance | 7 | 107789567 | 107789567 | Human | | name |
| 151720303 | CV1420807 | single nucleotide variant | NM_000111.3(SLC26A3):c.634G>A (p.Gly212Ser) | not provided [RCV002039976] | uncertain significance | 7 | 107789625 | 107789625 | Human | | name |
| 151762791 | CV1433875 | single nucleotide variant | NM_000111.3(SLC26A3):c.601G>T (p.Val201Leu) | not provided [RCV002024570] | uncertain significance | 7 | 107789658 | 107789658 | Human | | name |
| 151783090 | CV1434544 | single nucleotide variant | NM_000111.3(SLC26A3):c.814G>T (p.Val272Leu) | not provided [RCV001897423] | uncertain significance | 7 | 107787431 | 107787431 | Human | | name |
| 151802882 | CV1437718 | single nucleotide variant | NM_000111.3(SLC26A3):c.971G>T (p.Gly324Val) | not provided [RCV001899226] | uncertain significance | 7 | 107786827 | 107786827 | Human | | name |
| 151818389 | CV1449816 | single nucleotide variant | NM_000111.3(SLC26A3):c.967C>G (p.Pro323Ala) | not provided [RCV001878971] | uncertain significance | 7 | 107786831 | 107786831 | Human | | name |
| 151840804 | CV1463013 | single nucleotide variant | NM_000111.3(SLC26A3):c.824T>C (p.Val275Ala) | Inborn genetic diseases [RCV002550491]|not provided [RCV002031795] | uncertain significance | 7 | 107787421 | 107787421 | Human | 1 | name |
| 151807996 | CV1500708 | single nucleotide variant | NM_000111.3(SLC26A3):c.997G>A (p.Val333Met) | not provided [RCV001974508] | uncertain significance | 7 | 107783327 | 107783327 | Human | | name |
| 151741513 | CV1504254 | single nucleotide variant | NM_000111.3(SLC26A3):c.459T>A (p.Asn153Lys) | Inborn genetic diseases [RCV004046042]|not provided [RCV002022366] | uncertain significance | 7 | 107791159 | 107791159 | Human | 1 | name |
| 151796421 | CV1505628 | single nucleotide variant | NM_000111.3(SLC26A3):c.454C>T (p.Arg152Cys) | Inborn genetic diseases [RCV004968335]|not provided [RCV002047587] | uncertain significance | 7 | 107791164 | 107791164 | Human | 1 | name |
| 156273699 | CV1900084 | single nucleotide variant | NM_000111.3(SLC26A3):c.985A>G (p.Ile329Val) | not provided [RCV003086876] | uncertain significance | 7 | 107783339 | 107783339 | Human | | name |
| 156413758 | CV1901074 | single nucleotide variant | NM_000111.3(SLC26A3):c.940A>C (p.Lys314Gln) | Inborn genetic diseases [RCV002588261]|not provided [RCV002588260] | uncertain significance | 7 | 107786858 | 107786858 | Human | 1 | name |
| 156414392 | CV1912178 | single nucleotide variant | NM_000111.3(SLC26A3):c.464C>T (p.Thr155Ile) | Inborn genetic diseases [RCV003294528]|not provided [RCV002588585] | uncertain significance | 7 | 107791154 | 107791154 | Human | 1 | name |
| 156057689 | CV1930783 | single nucleotide variant | NM_000111.3(SLC26A3):c.533C>T (p.Ala178Val) | not provided [RCV002638170] | uncertain significance | 7 | 107791085 | 107791085 | Human | | name |
| 156446550 | CV1947896 | single nucleotide variant | NM_000111.3(SLC26A3):c.865C>A (p.Pro289Thr) | Inborn genetic diseases [RCV004244605]|not provided [RCV003118059] | uncertain significance | 7 | 107787380 | 107787380 | Human | 1 | name |
| 156115614 | CV1952317 | single nucleotide variant | NM_000111.3(SLC26A3):c.892G>A (p.Val298Met) | not provided [RCV002571661] | uncertain significance | 7 | 107786906 | 107786906 | Human | | name |
| 155906219 | CV1972149 | single nucleotide variant | NM_000111.3(SLC26A3):c.842G>A (p.Arg281His) | Congenital secretory diarrhea, chloride type [RCV003988881]|not provided [RCV002613689] | uncertain significance | 7 | 107787403 | 107787403 | Human | 1 | name |
| 156355129 | CV1975029 | single nucleotide variant | NM_000111.3(SLC26A3):c.301C>A (p.Pro101Thr) | not provided [RCV002602109] | uncertain significance | 7 | 107791911 | 107791911 | Human | | name |
| 156405283 | CV1994328 | single nucleotide variant | NM_000111.3(SLC26A3):c.953T>C (p.Val318Ala) | not provided [RCV002658269] | uncertain significance | 7 | 107786845 | 107786845 | Human | | name |
| 156097564 | CV2004718 | single nucleotide variant | NM_000111.3(SLC26A3):c.934A>G (p.Arg312Gly) | not provided [RCV002639456] | uncertain significance | 7 | 107786864 | 107786864 | Human | | name |
| 156292446 | CV2009804 | single nucleotide variant | NM_000111.3(SLC26A3):c.820A>G (p.Ile274Val) | not provided [RCV002715710] | uncertain significance | 7 | 107787425 | 107787425 | Human | | name |
| 156278017 | CV2011376 | single nucleotide variant | NM_000111.3(SLC26A3):c.355T>C (p.Phe119Leu) | not provided [RCV002715202] | benign | 7 | 107791857 | 107791857 | Human | | name |
| 156397428 | CV2012593 | single nucleotide variant | NM_000111.3(SLC26A3):c.995A>G (p.Asp332Gly) | not provided [RCV002725706] | uncertain significance | 7 | 107783329 | 107783329 | Human | | name |
| 156166280 | CV2019739 | single nucleotide variant | NM_000111.3(SLC26A3):c.898G>A (p.Ala300Thr) | not provided [RCV002710348] | uncertain significance | 7 | 107786900 | 107786900 | Human | | name |
| 155979150 | CV2073263 | single nucleotide variant | NM_000111.3(SLC26A3):c.888G>T (p.Met296Ile) | not provided [RCV002842431] | uncertain significance | 7 | 107787357 | 107787357 | Human | | name |
| 155998994 | CV2092094 | single nucleotide variant | NM_000111.3(SLC26A3):c.718C>A (p.Pro240Thr) | not provided [RCV002908533] | uncertain significance | 7 | 107789541 | 107789541 | Human | | name |
| 156232333 | CV2137106 | single nucleotide variant | NM_000111.3(SLC26A3):c.513C>A (p.Asp171Glu) | not provided [RCV003007788] | uncertain significance | 7 | 107791105 | 107791105 | Human | | name |
| 155946492 | CV2139482 | single nucleotide variant | NM_000111.3(SLC26A3):c.886A>G (p.Met296Val) | not provided [RCV002994374] | uncertain significance | 7 | 107787359 | 107787359 | Human | | name |
| 156075568 | CV2141712 | single nucleotide variant | NM_000111.3(SLC26A3):c.958G>A (p.Asp320Asn) | Inborn genetic diseases [RCV004065106]|not provided [RCV002979079] | uncertain significance | 7 | 107786840 | 107786840 | Human | 1 | name |
| 155989990 | CV2170440 | single nucleotide variant | NM_000111.3(SLC26A3):c.301C>T (p.Pro101Ser) | not provided [RCV003034282] | uncertain significance | 7 | 107791911 | 107791911 | Human | | name |
| 156184156 | CV2178554 | single nucleotide variant | NM_000111.3(SLC26A3):c.998T>C (p.Val333Ala) | not provided [RCV003057622] | uncertain significance | 7 | 107783326 | 107783326 | Human | | name |
| 156394786 | CV2181909 | single nucleotide variant | NM_000111.3(SLC26A3):c.431C>T (p.Ala144Val) | Congenital secretory diarrhea, chloride type [RCV005034600]|not provided [RCV003051745] | uncertain significance | 7 | 107791187 | 107791187 | Human | 1 | name |
| 156358353 | CV2187308 | single nucleotide variant | NM_000111.3(SLC26A3):c.605T>C (p.Val202Ala) | not provided [RCV003048846] | uncertain significance | 7 | 107789654 | 107789654 | Human | | name |
| 156298170 | CV2310593 | single nucleotide variant | NM_000111.3(SLC26A3):c.446T>A (p.Val149Asp) | Inborn genetic diseases [RCV002897706] | uncertain significance | 7 | 107791172 | 107791172 | Human | 1 | name |
| 401730760 | CV2686698 | single nucleotide variant | NM_000111.3(SLC26A3):c.458A>G (p.Asn153Ser) | Inborn genetic diseases [RCV003289658] | likely benign | 7 | 107791160 | 107791160 | Human | 1 | name |
| 405172065 | CV2864386 | single nucleotide variant | NM_000111.3(SLC26A3):c.314G>C (p.Gly105Ala) | not provided [RCV003542244] | uncertain significance | 7 | 107791898 | 107791898 | Human | | name |
| 402480124 | CV2910883 | deletion | NM_000111.3(SLC26A3):c.1281del (p.Ile428fs) | not provided [RCV003571985] | pathogenic | 7 | 107782827 | 107782827 | Human | | name |
| 402489365 | CV2984467 | single nucleotide variant | NM_000111.3(SLC26A3):c.544G>T (p.Val182Phe) | Inborn genetic diseases [RCV004371693]|not provided [RCV003713624] | uncertain significance | 7 | 107791074 | 107791074 | Human | 1 | name |
| 405223017 | CV2986366 | deletion | NM_000111.3(SLC26A3):c.1562del (p.Lys521fs) | not provided [RCV003680980] | pathogenic | 7 | 107776659 | 107776659 | Human | | name |
| 402488022 | CV2999070 | deletion | NM_000111.3(SLC26A3):c.1674del (p.Asp558fs) | Congenital secretory diarrhea, chloride type [RCV005036931]|not provided [RCV003687120] | pathogenic|likely pathogenic | 7 | 107776455 | 107776455 | Human | 1 | name |
| 402487268 | CV2999183 | deletion | NM_000111.3(SLC26A3):c.1066del (p.Ser356fs) | not provided [RCV003687188] | pathogenic | 7 | 107783258 | 107783258 | Human | | name |
| 11586233 | CV301452 | single nucleotide variant | NM_000111.3(SLC26A3):c.711C>G (p.His237Gln) | Congenital secretory diarrhea, chloride type [RCV000286342]|Inborn genetic diseases [RCV002523580]|not provided [RCV001861297] | likely benign|uncertain significance | 7 | 107789548 | 107789548 | Human | 2 | name |
| 405140257 | CV3029844 | single nucleotide variant | NM_000111.3(SLC26A3):c.814G>C (p.Val272Leu) | not provided [RCV003702446] | uncertain significance | 7 | 107787431 | 107787431 | Human | | name |
| 11605670 | CV304700 | single nucleotide variant | NM_000111.3(SLC26A3):c.590G>A (p.Arg197Gln) | Congenital secretory diarrhea, chloride type [RCV000322705]|Inborn genetic diseases [RCV003278788]|not provided [RCV001523515] | benign|likely benign|uncertain significance | 7 | 107789669 | 107789669 | Human | 2 | name |
| 405207164 | CV3064482 | duplication | NM_000111.3(SLC26A3):c.2116dup (p.Ser706fs) | not provided [RCV003731459] | pathogenic | 7 | 107767854 | 107767855 | Human | | name |
| 11606335 | CV309477 | single nucleotide variant | NM_000111.3(SLC26A3):c.921T>G (p.Cys307Trp) | Congenital secretory diarrhea, chloride type [RCV000330158]|not provided [RCV001515481] | benign|likely benign | 7 | 107786877 | 107786877 | Human | 1 | name |
| 11656996 | CV309485 | single nucleotide variant | NM_000111.3(SLC26A3):c.510T>G (p.Asp170Glu) | Congenital secretory diarrhea, chloride type [RCV000338111] | uncertain significance | 7 | 107791108 | 107791108 | Human | 1 | name |
| 8600312 | CV31794 | single nucleotide variant | NM_000111.3(SLC26A3):c.371A>T (p.His124Leu) | Congenital secretory diarrhea, chloride type [RCV000018240] | pathogenic | 7 | 107791841 | 107791841 | Human | 1 | name |
| 8600314 | CV31798 | single nucleotide variant | NM_000111.3(SLC26A3):c.559G>T (p.Gly187Ter) | Congenital secretory diarrhea, chloride type [RCV000018244]|not provided [RCV000522939] | pathogenic | 7 | 107791059 | 107791059 | Human | 1 | name |
| 405769126 | CV3321851 | single nucleotide variant | NM_000111.3(SLC26A3):c.298A>G (p.Ile100Val) | Inborn genetic diseases [RCV004456670] | uncertain significance | 7 | 107791914 | 107791914 | Human | 1 | name |
| 405769138 | CV3321853 | single nucleotide variant | NM_000111.3(SLC26A3):c.841C>T (p.Arg281Cys) | Inborn genetic diseases [RCV004456672] | uncertain significance | 7 | 107787404 | 107787404 | Human | 1 | name |
| 407475312 | CV3414343 | deletion | NM_000111.3(SLC26A3):c.1262del (p.Val421fs) | Congenital secretory diarrhea, chloride type [RCV004596679] | likely pathogenic | 7 | 107782846 | 107782846 | Human | 1 | name |
| 407451312 | CV3474071 | single nucleotide variant | NM_000111.3(SLC26A3):c.431C>A (p.Ala144Glu) | Inborn genetic diseases [RCV004683625] | uncertain significance | 7 | 107791187 | 107791187 | Human | 1 | name |
| 408365264 | CV3500693 | single nucleotide variant | NM_000111.3(SLC26A3):c.874A>G (p.Ile292Val) | Congenital secretory diarrhea, chloride type [RCV004720689] | uncertain significance | 7 | 107787371 | 107787371 | Human | 1 | name |
| 408384049 | CV3525893 | single nucleotide variant | NM_000111.3(SLC26A3):c.391C>T (p.Pro131Ser) | not specified [RCV004766803] | uncertain significance | 7 | 107791227 | 107791227 | Human | | name |
| 596920320 | CV3534501 | single nucleotide variant | NM_000111.3(SLC26A3):c.647C>T (p.Ala216Val) | not specified [RCV004782062] | uncertain significance | 7 | 107789612 | 107789612 | Human | | name |
| 597639711 | CV3606493 | single nucleotide variant | NM_000111.3(SLC26A3):c.485A>G (p.Asn162Ser) | Inborn genetic diseases [RCV004971291] | likely benign | 7 | 107791133 | 107791133 | Human | 1 | name |
| 597639731 | CV3606500 | single nucleotide variant | NM_000111.3(SLC26A3):c.914A>G (p.Tyr305Cys) | Inborn genetic diseases [RCV004971297] | uncertain significance | 7 | 107786884 | 107786884 | Human | 1 | name |
| 12833600 | CV370663 | single nucleotide variant | NM_000111.3(SLC26A3):c.357C>A (p.Phe119Leu) | Congenital secretory diarrhea, chloride type [RCV001158760]|not provided [RCV000514750] | benign|likely benign | 7 | 107791855 | 107791855 | Human | 1 | name |
| 597686595 | CV3718761 | single nucleotide variant | NM_000111.3(SLC26A3):c.877G>A (p.Glu293Lys) | Congenital secretory diarrhea, chloride type [RCV005045913] | likely pathogenic | 7 | 107787368 | 107787368 | Human | 1 | name |
| 597838500 | CV3736909 | deletion | NM_000111.3(SLC26A3):c.1551del (p.Asn518fs) | not provided [RCV005064389] | pathogenic | 7 | 107776670 | 107776670 | Human | | name |
| 597868526 | CV3783954 | single nucleotide variant | NM_000111.3(SLC26A3):c.996C>G (p.Asp332Glu) | not provided [RCV005122257] | uncertain significance | 7 | 107783328 | 107783328 | Human | | name |
| 598169335 | CV3918317 | single nucleotide variant | NM_000111.3(SLC26A3):c.583A>G (p.Ile195Val) | Inborn genetic diseases [RCV005284251] | likely benign | 7 | 107789676 | 107789676 | Human | 1 | name |
| 8616708 | CV70609 | deletion | NM_000111.3(SLC26A3):c.1362del (p.Gln454fs) | Congenital secretory diarrhea, chloride type [RCV000049379] | likely pathogenic | 7 | 107779713 | 107779713 | Human | 1 | name |
| 8616715 | CV70616 | deletion | NM_000111.3(SLC26A3):c.1517del (p.Pro506fs) | Congenital secretory diarrhea, chloride type [RCV000049386] | likely pathogenic | 7 | 107776704 | 107776704 | Human | 1 | name |
| 8616721 | CV70622 | deletion | NM_000111.3(SLC26A3):c.1609del (p.Ile537fs) | Congenital secretory diarrhea, chloride type [RCV000049392]|not provided [RCV003556121] | pathogenic|likely pathogenic | 7 | 107776520 | 107776520 | Human | 1 | name |
| 8616729 | CV70630 | deletion | NM_000111.3(SLC26A3):c.2116del (p.Ser706fs) | Congenital secretory diarrhea, chloride type [RCV000049400] | likely pathogenic | 7 | 107767855 | 107767855 | Human | 1 | name |
| 8616735 | CV70636 | single nucleotide variant | NM_000111.3(SLC26A3):c.358G>A (p.Gly120Ser) | Congenital secretory diarrhea, chloride type [RCV000049406]|SLC26A3-related disorder [RCV004751246]|not provided [RCV003556125] | pathogenic|likely pathogenic | 7 | 107791854 | 107791854 | Human | 1 | name , trait , alternate_id |
| 8616736 | CV70637 | single nucleotide variant | NM_000111.3(SLC26A3):c.386C>T (p.Pro129Leu) | Congenital secretory diarrhea, chloride type [RCV000049407]|not provided [RCV002513683] | likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 7 | 107791232 | 107791232 | Human | 1 | name |
| 8616737 | CV70638 | single nucleotide variant | NM_000111.3(SLC26A3):c.392C>G (p.Pro131Arg) | Congenital secretory diarrhea, chloride type [RCV000049408]|not provided [RCV003556126] | pathogenic|likely pathogenic|uncertain significance | 7 | 107791226 | 107791226 | Human | 1 | name |
| 8616738 | CV70639 | single nucleotide variant | NM_000111.3(SLC26A3):c.392C>T (p.Pro131Leu) | Congenital secretory diarrhea, chloride type [RCV000049409]|not provided [RCV003556127] | pathogenic|likely pathogenic | 7 | 107791226 | 107791226 | Human | 1 | name |
| 8616740 | CV70641 | single nucleotide variant | NM_000111.3(SLC26A3):c.408G>A (p.Met136Ile) | Congenital secretory diarrhea, chloride type [RCV000049411] | likely pathogenic | 7 | 107791210 | 107791210 | Human | 1 | name |
| 8616741 | CV70642 | single nucleotide variant | NM_000111.3(SLC26A3):c.525G>C (p.Arg175Ser) | Congenital secretory diarrhea, chloride type [RCV000049412] | likely pathogenic | 7 | 107791093 | 107791093 | Human | 1 | name |
| 8616744 | CV70645 | single nucleotide variant | NM_000111.3(SLC26A3):c.610T>G (p.Tyr204Asp) | Congenital secretory diarrhea, chloride type [RCV000049415]|not specified [RCV004767046] | likely pathogenic|uncertain significance | 7 | 107789649 | 107789649 | Human | 1 | name |
| 8616745 | CV70646 | single nucleotide variant | NM_000111.3(SLC26A3):c.616T>C (p.Ser206Pro) | Congenital secretory diarrhea, chloride type [RCV000049416] | likely pathogenic | 7 | 107789643 | 107789643 | Human | 1 | name |
| 8616746 | CV70647 | single nucleotide variant | NM_000111.3(SLC26A3):c.659A>C (p.His220Pro) | Congenital secretory diarrhea, chloride type [RCV000049417] | likely pathogenic | 7 | 107789600 | 107789600 | Human | 1 | name |
| 8616747 | CV70648 | single nucleotide variant | NM_000111.3(SLC26A3):c.915C>A (p.Tyr305Ter) | Congenital secretory diarrhea, chloride type [RCV000049418]|not provided [RCV003556128] | pathogenic|likely pathogenic | 7 | 107786883 | 107786883 | Human | 1 | name |
| 21072230 | CV792765 | deletion | NM_000111.3(SLC26A3):c.1652del (p.Phe551fs) | Congenital secretory diarrhea, chloride type [RCV000991385] | likely pathogenic | 7 | 107776477 | 107776477 | Human | 1 | name |
| 28870829 | CV897224 | single nucleotide variant | NM_000111.3(SLC26A3):c.623C>A (p.Ser208Tyr) | Congenital secretory diarrhea, chloride type [RCV001163681] | uncertain significance | 7 | 107789636 | 107789636 | Human | 1 | name |
| 28870832 | CV897225 | single nucleotide variant | NM_000111.3(SLC26A3):c.529G>A (p.Ala177Thr) | Congenital secretory diarrhea, chloride type [RCV001163682]|not provided [RCV002032507] | uncertain significance | 7 | 107791089 | 107791089 | Human | 1 | name |
| 28870834 | CV897226 | single nucleotide variant | NM_000111.3(SLC26A3):c.455G>A (p.Arg152His) | Congenital secretory diarrhea, chloride type [RCV001163683]|Inborn genetic diseases [RCV002559569]|not provided [RCV002032508] | uncertain significance | 7 | 107791163 | 107791163 | Human | 2 | name |
| 28870837 | CV897227 | single nucleotide variant | NM_000111.3(SLC26A3):c.404T>C (p.Met135Thr) | Congenital secretory diarrhea, chloride type [RCV001163684]|Inborn genetic diseases [RCV004963165] | uncertain significance | 7 | 107791214 | 107791214 | Human | 2 | name |
| 126766722 | CV1007086 | single nucleotide variant | NM_000111.3(SLC26A3):c.2275C>T (p.Pro759Ser) | not provided [RCV001320558] | uncertain significance | 7 | 107765875 | 107765875 | Human | | name |
| 126748265 | CV1007087 | single nucleotide variant | NM_000111.3(SLC26A3):c.1793T>A (p.Val598Asp) | not provided [RCV001315502] | uncertain significance | 7 | 107774134 | 107774134 | Human | | name |
| 126736596 | CV1020327 | single nucleotide variant | NM_000111.3(SLC26A3):c.1101T>G (p.Tyr367Ter) | not provided [RCV003707840] | pathogenic | 7 | 107783223 | 107783223 | Human | | name |
| 126775041 | CV1027603 | single nucleotide variant | NM_000111.3(SLC26A3):c.1649G>C (p.Gly550Ala) | Inborn genetic diseases [RCV003246913]|not provided [RCV001347925] | uncertain significance | 7 | 107776480 | 107776480 | Human | 1 | name |
| 126919672 | CV1044561 | single nucleotide variant | NM_000111.3(SLC26A3):c.1384T>C (p.Trp462Arg) | not provided [RCV001373368] | uncertain significance | 7 | 107779691 | 107779691 | Human | | name |
| 150557055 | CV1310382 | single nucleotide variant | NM_000111.3(SLC26A3):c.1307A>G (p.Gln436Arg) | Congenital secretory diarrhea, chloride type [RCV001775310] | likely pathogenic | 7 | 107782801 | 107782801 | Human | 1 | name |
| 150546751 | CV1313888 | single nucleotide variant | NM_000111.3(SLC26A3):c.1021G>T (p.Gly341Ter) | not provided [RCV003577338] | pathogenic | 7 | 107783303 | 107783303 | Human | | name |
| 151892250 | CV1337523 | single nucleotide variant | NM_000111.3(SLC26A3):c.1670T>C (p.Ile557Thr) | not provided [RCV001943917] | uncertain significance | 7 | 107776459 | 107776459 | Human | | name |
| 151727887 | CV1338708 | single nucleotide variant | NM_000111.3(SLC26A3):c.1193C>T (p.Ser398Phe) | not provided [RCV002004477]|not specified [RCV003331245] | uncertain significance | 7 | 107783020 | 107783020 | Human | | name |
| 151863790 | CV1348052 | single nucleotide variant | NM_000111.3(SLC26A3):c.2050G>A (p.Val684Ile) | Inborn genetic diseases [RCV002569264]|not provided [RCV001959571] | uncertain significance | 7 | 107772066 | 107772066 | Human | 1 | name |
| 151810151 | CV1348422 | single nucleotide variant | NM_000111.3(SLC26A3):c.1315G>A (p.Val439Ile) | Inborn genetic diseases [RCV004039603]|not provided [RCV001878186] | uncertain significance | 7 | 107779760 | 107779760 | Human | 1 | name |
| 151877456 | CV1361428 | single nucleotide variant | NM_000111.3(SLC26A3):c.1836G>T (p.Gln612His) | not provided [RCV001926003] | uncertain significance | 7 | 107774091 | 107774091 | Human | | name |
| 151861315 | CV1364906 | single nucleotide variant | NM_000111.3(SLC26A3):c.1702C>G (p.Leu568Val) | not provided [RCV002017789] | uncertain significance | 7 | 107774848 | 107774848 | Human | | name |
| 151772491 | CV1368446 | single nucleotide variant | NM_000111.3(SLC26A3):c.2255G>A (p.Arg752His) | not provided [RCV001950298] | uncertain significance | 7 | 107767595 | 107767595 | Human | | name |
| 151844660 | CV1372240 | single nucleotide variant | NM_000111.3(SLC26A3):c.1177G>T (p.Gly393Trp) | Congenital secretory diarrhea, chloride type [RCV005042624]|not provided [RCV001995177] | likely pathogenic | 7 | 107783036 | 107783036 | Human | 1 | name |
| 151876790 | CV1372986 | single nucleotide variant | NM_000111.3(SLC26A3):c.1619G>T (p.Cys540Phe) | not provided [RCV002019637] | uncertain significance | 7 | 107776510 | 107776510 | Human | | name |
| 151875927 | CV1376350 | single nucleotide variant | NM_000111.3(SLC26A3):c.1821G>C (p.Glu607Asp) | not provided [RCV002019535] | uncertain significance | 7 | 107774106 | 107774106 | Human | | name |
| 151813111 | CV1382601 | single nucleotide variant | NM_000111.3(SLC26A3):c.1621C>T (p.Pro541Ser) | not provided [RCV002049047] | uncertain significance | 7 | 107776508 | 107776508 | Human | | name |
| 151839268 | CV1382869 | single nucleotide variant | NM_000111.3(SLC26A3):c.1039G>T (p.Ala347Ser) | not provided [RCV002031621] | uncertain significance | 7 | 107783285 | 107783285 | Human | | name |
| 151830632 | CV1384469 | single nucleotide variant | NM_000111.3(SLC26A3):c.1697G>A (p.Arg566Gln) | not provided [RCV001955647] | uncertain significance | 7 | 107774853 | 107774853 | Human | | name |
| 151739940 | CV1386410 | single nucleotide variant | NM_000111.3(SLC26A3):c.2260C>T (p.Arg754Trp) | not provided [RCV001893169] | uncertain significance | 7 | 107767590 | 107767590 | Human | | name |
| 151737009 | CV1388051 | single nucleotide variant | NM_000111.3(SLC26A3):c.1786T>C (p.Cys596Arg) | not provided [RCV002005414] | uncertain significance | 7 | 107774141 | 107774141 | Human | | name |
| 151879718 | CV1388313 | single nucleotide variant | NM_000111.3(SLC26A3):c.1684T>G (p.Phe562Val) | not provided [RCV001982358] | uncertain significance | 7 | 107774866 | 107774866 | Human | | name |
| 151711488 | CV1395092 | single nucleotide variant | NM_000111.3(SLC26A3):c.2051T>C (p.Val684Ala) | Inborn genetic diseases [RCV002569311]|not provided [RCV001964392] | uncertain significance | 7 | 107772065 | 107772065 | Human | 1 | name |
| 151792456 | CV1399352 | single nucleotide variant | NM_000111.3(SLC26A3):c.2276C>T (p.Pro759Leu) | not provided [RCV001898305] | uncertain significance | 7 | 107765874 | 107765874 | Human | | name |
| 151760426 | CV1404004 | single nucleotide variant | NM_000111.3(SLC26A3):c.2099T>C (p.Phe700Ser) | not provided [RCV002007795] | uncertain significance | 7 | 107767872 | 107767872 | Human | | name |
| 151864898 | CV1405898 | single nucleotide variant | NM_000111.3(SLC26A3):c.2120C>T (p.Ser707Leu) | not provided [RCV001959705] | uncertain significance | 7 | 107767851 | 107767851 | Human | | name |
| 151811946 | CV1417533 | single nucleotide variant | NM_000111.3(SLC26A3):c.1579T>G (p.Tyr527Asp) | Inborn genetic diseases [RCV003382802]|not provided [RCV002029055] | uncertain significance | 7 | 107776642 | 107776642 | Human | 1 | name |
| 151746050 | CV1433061 | single nucleotide variant | NM_000111.3(SLC26A3):c.2110G>A (p.Val704Met) | not provided [RCV001985737] | uncertain significance | 7 | 107767861 | 107767861 | Human | | name |
| 151715815 | CV1434897 | single nucleotide variant | NM_000111.3(SLC26A3):c.2006C>T (p.Ser669Leu) | not provided [RCV001890312] | uncertain significance | 7 | 107773921 | 107773921 | Human | | name |
| 151842199 | CV1436115 | single nucleotide variant | NM_000111.3(SLC26A3):c.1828A>G (p.Asn610Asp) | not provided [RCV001956891] | uncertain significance | 7 | 107774099 | 107774099 | Human | | name |
| 151871950 | CV1436733 | single nucleotide variant | NM_000111.3(SLC26A3):c.1736G>A (p.Arg579Gln) | not provided [RCV001998462] | uncertain significance | 7 | 107774814 | 107774814 | Human | | name |
| 151794721 | CV1437382 | single nucleotide variant | NM_000111.3(SLC26A3):c.1382T>C (p.Leu461Ser) | not provided [RCV001876835] | uncertain significance | 7 | 107779693 | 107779693 | Human | | name |
| 151711361 | CV1440034 | single nucleotide variant | NM_000111.3(SLC26A3):c.2117G>A (p.Ser706Asn) | not provided [RCV001908076] | uncertain significance | 7 | 107767854 | 107767854 | Human | | name |
| 151837629 | CV1445212 | single nucleotide variant | NM_000111.3(SLC26A3):c.1712G>A (p.Arg571His) | not provided [RCV001994363] | uncertain significance | 7 | 107774838 | 107774838 | Human | | name |
| 151799275 | CV1445884 | single nucleotide variant | NM_000111.3(SLC26A3):c.1676C>T (p.Ala559Val) | not provided [RCV002011414] | uncertain significance | 7 | 107776453 | 107776453 | Human | | name |
| 151827084 | CV1447323 | single nucleotide variant | NM_000111.3(SLC26A3):c.2222T>C (p.Ile741Thr) | not provided [RCV001870165] | uncertain significance | 7 | 107767628 | 107767628 | Human | | name |
| 151795099 | CV1448851 | single nucleotide variant | NM_000111.3(SLC26A3):c.1018G>A (p.Val340Ile) | not provided [RCV001990430] | uncertain significance | 7 | 107783306 | 107783306 | Human | | name |
| 151885384 | CV1451577 | single nucleotide variant | NM_000111.3(SLC26A3):c.1008C>G (p.Phe336Leu) | not provided [RCV002000472] | uncertain significance | 7 | 107783316 | 107783316 | Human | | name |
| 151731632 | CV1454249 | single nucleotide variant | NM_000111.3(SLC26A3):c.1660C>T (p.Arg554Trp) | Inborn genetic diseases [RCV003167319]|not provided [RCV001967170] | uncertain significance | 7 | 107776469 | 107776469 | Human | 1 | name |
| 151739725 | CV1455240 | single nucleotide variant | NM_000111.3(SLC26A3):c.1922T>A (p.Val641Asp) | not provided [RCV002005696] | uncertain significance | 7 | 107774005 | 107774005 | Human | | name |
| 151740731 | CV1455371 | single nucleotide variant | NM_000111.3(SLC26A3):c.2045A>G (p.Tyr682Cys) | not provided [RCV002005796] | uncertain significance | 7 | 107772071 | 107772071 | Human | | name |
| 151751688 | CV1457349 | single nucleotide variant | NM_000111.3(SLC26A3):c.1438A>G (p.Ile480Val) | not provided [RCV001913045] | uncertain significance | 7 | 107778251 | 107778251 | Human | | name |
| 151863439 | CV1460857 | indel | NM_000111.3(SLC26A3):c.2063-4_2063-3delinsAA | not provided [RCV001905595] | uncertain significance | 7 | 107767911 | 107767912 | Human | | name |
| 151716062 | CV1470519 | single nucleotide variant | NM_000111.3(SLC26A3):c.1886T>C (p.Ile629Thr) | not provided [RCV001908980] | uncertain significance | 7 | 107774041 | 107774041 | Human | | name |
| 151872526 | CV1470814 | single nucleotide variant | NM_000111.3(SLC26A3):c.1078G>A (p.Val360Ile) | not provided [RCV001925404] | uncertain significance | 7 | 107783246 | 107783246 | Human | | name |
| 151843080 | CV1475535 | single nucleotide variant | NM_000111.3(SLC26A3):c.2169G>T (p.Lys723Asn) | not provided [RCV001994996] | uncertain significance | 7 | 107767802 | 107767802 | Human | | name |
| 151808707 | CV1476297 | single nucleotide variant | NM_000111.3(SLC26A3):c.1541T>C (p.Ile514Thr) | Inborn genetic diseases [RCV004968375]|not provided [RCV001899738] | uncertain significance | 7 | 107776680 | 107776680 | Human | 1 | name |
| 151722949 | CV1498248 | single nucleotide variant | NM_000111.3(SLC26A3):c.1832A>G (p.Asn611Ser) | not provided [RCV001983333] | uncertain significance | 7 | 107774095 | 107774095 | Human | | name |
| 151710245 | CV1511741 | single nucleotide variant | NM_000111.3(SLC26A3):c.2231C>T (p.Thr744Ile) | not provided [RCV002001808] | uncertain significance | 7 | 107767619 | 107767619 | Human | | name |
| 152112677 | CV1541957 | single nucleotide variant | NM_000111.3(SLC26A3):c.2062G>C (p.Asp688His) | not provided [RCV002116761] | benign | 7 | 107772054 | 107772054 | Human | | name |
| 152090864 | CV1654925 | single nucleotide variant | NM_000111.3(SLC26A3):c.1495A>G (p.Ile499Val) | Inborn genetic diseases [RCV004045614]|not provided [RCV002212705] | likely benign|uncertain significance | 7 | 107778194 | 107778194 | Human | 1 | name |
| 155709420 | CV1775739 | single nucleotide variant | NM_000111.3(SLC26A3):c.1027T>C (p.Cys343Arg) | not provided [RCV002296128] | uncertain significance | 7 | 107783297 | 107783297 | Human | | name |
| 156392234 | CV1869567 | single nucleotide variant | NM_000111.3(SLC26A3):c.1645A>G (p.Ile549Val) | not provided [RCV003051455] | uncertain significance | 7 | 107776484 | 107776484 | Human | | name |
| 156045572 | CV1914806 | single nucleotide variant | NM_000111.3(SLC26A3):c.1816G>A (p.Glu606Lys) | not provided [RCV002620423] | likely benign | 7 | 107774111 | 107774111 | Human | | name |
| 156364577 | CV1928595 | single nucleotide variant | NM_000111.3(SLC26A3):c.2021T>A (p.Phe674Tyr) | not provided [RCV002632914] | uncertain significance | 7 | 107772095 | 107772095 | Human | | name |
| 156283689 | CV1929612 | single nucleotide variant | NM_000111.3(SLC26A3):c.2254C>T (p.Arg752Cys) | not provided [RCV002628525] | uncertain significance | 7 | 107767596 | 107767596 | Human | | name |
| 156438559 | CV1947169 | single nucleotide variant | NM_000111.3(SLC26A3):c.2190G>C (p.Lys730Asn) | not provided [RCV003108503] | uncertain significance | 7 | 107767781 | 107767781 | Human | | name |
| 156224429 | CV1960453 | single nucleotide variant | NM_000111.3(SLC26A3):c.2168A>T (p.Lys723Met) | not provided [RCV002575649] | uncertain significance | 7 | 107767803 | 107767803 | Human | | name |
| 156171351 | CV1968340 | single nucleotide variant | NM_000111.3(SLC26A3):c.1225A>G (p.Lys409Glu) | not provided [RCV002594780] | uncertain significance | 7 | 107782988 | 107782988 | Human | | name |
| 156417119 | CV1970215 | single nucleotide variant | NM_000111.3(SLC26A3):c.1454G>A (p.Gly485Glu) | Inborn genetic diseases [RCV003289540]|not provided [RCV002590036] | uncertain significance | 7 | 107778235 | 107778235 | Human | 1 | name |
| 156044556 | CV1977980 | single nucleotide variant | NM_000111.3(SLC26A3):c.1858A>G (p.Ile620Val) | not provided [RCV002590451] | uncertain significance | 7 | 107774069 | 107774069 | Human | | name |
| 155966226 | CV1978078 | single nucleotide variant | NM_000111.3(SLC26A3):c.2061T>A (p.Asp687Glu) | not provided [RCV002616967] | uncertain significance | 7 | 107772055 | 107772055 | Human | | name |
| 156344327 | CV1981774 | single nucleotide variant | NM_000111.3(SLC26A3):c.1711C>T (p.Arg571Cys) | not provided [RCV002631597] | uncertain significance | 7 | 107774839 | 107774839 | Human | | name |
| 156327853 | CV1990686 | single nucleotide variant | NM_000111.3(SLC26A3):c.2023A>T (p.Ile675Phe) | not provided [RCV002630756] | uncertain significance | 7 | 107772093 | 107772093 | Human | | name |
| 156311426 | CV2000106 | single nucleotide variant | NM_000111.3(SLC26A3):c.1246A>G (p.Ile416Val) | not provided [RCV002671658] | uncertain significance | 7 | 107782862 | 107782862 | Human | | name |
| 156028813 | CV2004785 | single nucleotide variant | NM_000111.3(SLC26A3):c.1711C>A (p.Arg571Ser) | not provided [RCV002658568] | uncertain significance | 7 | 107774839 | 107774839 | Human | | name |
| 156077284 | CV2011847 | single nucleotide variant | NM_000111.3(SLC26A3):c.1422G>A (p.Met474Ile) | not provided [RCV002705874] | uncertain significance | 7 | 107778267 | 107778267 | Human | | name |
| 156398686 | CV2013099 | single nucleotide variant | NM_000111.3(SLC26A3):c.2143G>A (p.Asp715Asn) | not provided [RCV002725813]|not specified [RCV005406507] | pathogenic|uncertain significance | 7 | 107767828 | 107767828 | Human | | name |
| 156119089 | CV2013537 | single nucleotide variant | NM_000111.3(SLC26A3):c.2248G>A (p.Gly750Arg) | not provided [RCV002740128] | uncertain significance | 7 | 107767602 | 107767602 | Human | | name |
| 156123998 | CV2021109 | single nucleotide variant | NM_000111.3(SLC26A3):c.1720G>A (p.Ala574Thr) | not provided [RCV002740308] | uncertain significance | 7 | 107774830 | 107774830 | Human | | name |
| 156322386 | CV2022223 | single nucleotide variant | NM_000111.3(SLC26A3):c.1096G>A (p.Asp366Asn) | not provided [RCV002717181] | uncertain significance | 7 | 107783228 | 107783228 | Human | | name |
| 155971274 | CV2024793 | single nucleotide variant | NM_000111.3(SLC26A3):c.2176T>A (p.Tyr726Asn) | not provided [RCV002754903] | uncertain significance | 7 | 107767795 | 107767795 | Human | | name |
| 156225330 | CV2064272 | single nucleotide variant | NM_000111.3(SLC26A3):c.1964C>T (p.Ala655Val) | not provided [RCV002829845] | uncertain significance | 7 | 107773963 | 107773963 | Human | | name |
| 156021139 | CV2111031 | single nucleotide variant | NM_000111.3(SLC26A3):c.1838T>C (p.Ile613Thr) | Inborn genetic diseases [RCV002909618]|not provided [RCV002932300] | uncertain significance | 7 | 107774089 | 107774089 | Human | 1 | name |
| 156366708 | CV2116652 | single nucleotide variant | NM_000111.3(SLC26A3):c.2279T>G (p.Val760Gly) | not provided [RCV002942005] | uncertain significance | 7 | 107765871 | 107765871 | Human | | name |
| 156367321 | CV2116831 | single nucleotide variant | NM_000111.3(SLC26A3):c.1168G>A (p.Gly390Arg) | not provided [RCV002942052] | uncertain significance | 7 | 107783045 | 107783045 | Human | | name |
| 156019485 | CV2118501 | single nucleotide variant | NM_000111.3(SLC26A3):c.1498G>A (p.Val500Met) | not provided [RCV002948703] | uncertain significance | 7 | 107778191 | 107778191 | Human | | name |
| 156214474 | CV2127915 | single nucleotide variant | NM_000111.3(SLC26A3):c.1672G>A (p.Asp558Asn) | not provided [RCV002957886] | uncertain significance | 7 | 107776457 | 107776457 | Human | | name |
| 156194199 | CV2171421 | single nucleotide variant | NM_000111.3(SLC26A3):c.1885A>C (p.Ile629Leu) | not provided [RCV003024231] | uncertain significance | 7 | 107774042 | 107774042 | Human | | name |
| 156112480 | CV2171773 | single nucleotide variant | NM_000111.3(SLC26A3):c.2040T>A (p.Asp680Glu) | not provided [RCV003039001] | uncertain significance | 7 | 107772076 | 107772076 | Human | | name |
| 156216793 | CV2176698 | single nucleotide variant | NM_000111.3(SLC26A3):c.1673A>C (p.Asp558Ala) | not provided [RCV003025033] | uncertain significance | 7 | 107776456 | 107776456 | Human | | name |
| 156038947 | CV2261170 | single nucleotide variant | NM_000111.3(SLC26A3):c.1754G>A (p.Gly585Asp) | Inborn genetic diseases [RCV002821599] | uncertain significance | 7 | 107774796 | 107774796 | Human | 1 | name |
| 156015216 | CV2298713 | single nucleotide variant | NM_000111.3(SLC26A3):c.1688G>A (p.Ser563Asn) | Inborn genetic diseases [RCV002884479] | likely benign | 7 | 107774862 | 107774862 | Human | 1 | name |
| 156055599 | CV2308807 | single nucleotide variant | NM_000111.3(SLC26A3):c.1220G>A (p.Gly407Glu) | Inborn genetic diseases [RCV002911464] | uncertain significance | 7 | 107782993 | 107782993 | Human | 1 | name |
| 243062517 | CV2404963 | single nucleotide variant | NM_000111.3(SLC26A3):c.1120G>C (p.Glu374Gln) | Congenital secretory diarrhea, chloride type [RCV003140513] | uncertain significance | 7 | 107783093 | 107783093 | Human | 1 | name |
| 243060626 | CV2408626 | single nucleotide variant | NM_000111.3(SLC26A3):c.1728G>C (p.Arg576Ser) | Congenital secretory diarrhea, chloride type [RCV003136755]|Inborn genetic diseases [RCV004963558] | uncertain significance | 7 | 107774822 | 107774822 | Human | 2 | name |
| 401940623 | CV2671932 | single nucleotide variant | NM_000111.3(SLC26A3):c.1679T>A (p.Val560Asp) | Congenital secretory diarrhea, chloride type [RCV003459815] | pathogenic | 7 | 107774871 | 107774871 | Human | 1 | name |
| 401720891 | CV2737346 | single nucleotide variant | NM_000111.3(SLC26A3):c.1511A>C (p.Gln504Pro) | Congenital secretory diarrhea, chloride type [RCV003314285] | uncertain significance | 7 | 107778178 | 107778178 | Human | 1 | name |
| 401797289 | CV2742119 | single nucleotide variant | NM_000111.3(SLC26A3):c.1372A>G (p.Ile458Val) | not specified [RCV003324297] | uncertain significance | 7 | 107779703 | 107779703 | Human | | name |
| 401863775 | CV2770822 | single nucleotide variant | NM_000111.3(SLC26A3):c.1646T>A (p.Ile549Asn) | Inborn genetic diseases [RCV003359114] | uncertain significance | 7 | 107776483 | 107776483 | Human | 1 | name |
| 401933642 | CV2799416 | single nucleotide variant | NM_000111.3(SLC26A3):c.1416G>A (p.Trp472Ter) | SLC26A3-related disorder [RCV003410516] | likely pathogenic | 7 | 107778273 | 107778273 | Human | | name , trait , alternate_id |
| 401902659 | CV2799467 | single nucleotide variant | NM_000111.3(SLC26A3):c.1190T>G (p.Leu397Arg) | SLC26A3-related disorder [RCV003418978] | uncertain significance | 7 | 107783023 | 107783023 | Human | | name , trait , alternate_id |
| 401964004 | CV2843447 | single nucleotide variant | NM_000111.3(SLC26A3):c.1181G>T (p.Ser394Ile) | not provided [RCV003553993]|not specified [RCV003479789] | pathogenic|uncertain significance | 7 | 107783032 | 107783032 | Human | | name |
| 405068296 | CV2875630 | single nucleotide variant | NM_000111.3(SLC26A3):c.1735C>T (p.Arg579Ter) | Congenital secretory diarrhea, chloride type [RCV005047648]|not provided [RCV003548375] | pathogenic | 7 | 107774815 | 107774815 | Human | 1 | name |
| 405216791 | CV2897201 | single nucleotide variant | NM_000111.3(SLC26A3):c.2092G>T (p.Glu698Ter) | not provided [RCV003567883] | pathogenic | 7 | 107767879 | 107767879 | Human | | name |
| 405208575 | CV2909282 | single nucleotide variant | NM_000111.3(SLC26A3):c.1407T>A (p.Cys469Ter) | not provided [RCV003566806] | pathogenic | 7 | 107779668 | 107779668 | Human | | name |
| 405186077 | CV2921384 | single nucleotide variant | NM_000111.3(SLC26A3):c.2017G>T (p.Glu673Ter) | not provided [RCV003564468] | pathogenic | 7 | 107772099 | 107772099 | Human | | name |
| 405113830 | CV2948768 | single nucleotide variant | NM_000111.3(SLC26A3):c.1750C>T (p.Gln584Ter) | not provided [RCV003666667] | pathogenic | 7 | 107774800 | 107774800 | Human | | name |
| 405248491 | CV3003685 | single nucleotide variant | NM_000111.3(SLC26A3):c.1369G>T (p.Glu457Ter) | not provided [RCV003721130] | pathogenic | 7 | 107779706 | 107779706 | Human | | name |
| 402489913 | CV3011650 | single nucleotide variant | NM_000111.3(SLC26A3):c.1483C>T (p.Gln495Ter) | not provided [RCV003687435] | pathogenic | 7 | 107778206 | 107778206 | Human | | name |
| 11588470 | CV301443 | single nucleotide variant | NM_000111.3(SLC26A3):c.1786T>G (p.Cys596Gly) | Congenital secretory diarrhea, chloride type [RCV000303361]|Inborn genetic diseases [RCV002524518]|not provided [RCV002058644] | benign|uncertain significance | 7 | 107774141 | 107774141 | Human | 2 | name |
| 11592520 | CV301444 | single nucleotide variant | NM_000111.3(SLC26A3):c.1744C>G (p.Gln582Glu) | Congenital secretory diarrhea, chloride type [RCV000339526]|not provided [RCV001861296] | uncertain significance | 7 | 107774806 | 107774806 | Human | 1 | name |
| 402487551 | CV3034018 | single nucleotide variant | NM_000111.3(SLC26A3):c.1009C>T (p.Gln337Ter) | not provided [RCV003713384] | pathogenic | 7 | 107783315 | 107783315 | Human | | name |
| 11610504 | CV309310 | single nucleotide variant | NM_000111.3(SLC26A3):c.2258A>G (p.Asn753Ser) | Congenital secretory diarrhea, chloride type [RCV000382696]|not provided [RCV000956520] | benign|likely benign | 7 | 107767592 | 107767592 | Human | 1 | name |
| 11651565 | CV309321 | single nucleotide variant | NM_000111.3(SLC26A3):c.1675G>C (p.Ala559Pro) | Congenital secretory diarrhea, chloride type [RCV000299896] | uncertain significance | 7 | 107776454 | 107776454 | Human | 1 | name |
| 11608370 | CV309330 | single nucleotide variant | NM_000111.3(SLC26A3):c.1529C>T (p.Thr510Met) | Congenital secretory diarrhea, chloride type [RCV000354498]|not provided [RCV000889676] | benign|likely benign | 7 | 107776692 | 107776692 | Human | 1 | name |
| 11664345 | CV309331 | single nucleotide variant | NM_000111.3(SLC26A3):c.1402G>A (p.Asp468Asn) | Congenital secretory diarrhea, chloride type [RCV000404954] | uncertain significance | 7 | 107779673 | 107779673 | Human | 1 | name |
| 11649561 | CV309470 | single nucleotide variant | NM_000111.3(SLC26A3):c.2155C>T (p.His719Tyr) | Congenital secretory diarrhea, chloride type [RCV000288289] | uncertain significance | 7 | 107767816 | 107767816 | Human | 1 | name |
| 11607390 | CV309474 | single nucleotide variant | NM_000111.3(SLC26A3):c.2092G>C (p.Glu698Gln) | Congenital secretory diarrhea, chloride type [RCV000343129]|not provided [RCV000959676] | benign|uncertain significance | 7 | 107767879 | 107767879 | Human | 1 | name |
| 8600315 | CV31800 | single nucleotide variant | NM_000111.3(SLC26A3):c.1386G>A (p.Trp462Ter) | Congenital secretory diarrhea, chloride type [RCV000018246] | pathogenic | 7 | 107779689 | 107779689 | Human | 1 | name |
| 405769114 | CV3321849 | single nucleotide variant | NM_000111.3(SLC26A3):c.1681G>T (p.Gly561Cys) | Inborn genetic diseases [RCV004456668] | uncertain significance | 7 | 107774869 | 107774869 | Human | 1 | name |
| 405769120 | CV3321850 | single nucleotide variant | NM_000111.3(SLC26A3):c.2125T>A (p.Phe709Ile) | Inborn genetic diseases [RCV004456669] | uncertain significance | 7 | 107767846 | 107767846 | Human | 1 | name |
| 407509453 | CV3474067 | single nucleotide variant | NM_000111.3(SLC26A3):c.1721C>T (p.Ala574Val) | Inborn genetic diseases [RCV004672379] | uncertain significance | 7 | 107774829 | 107774829 | Human | 1 | name |
| 407509455 | CV3474068 | single nucleotide variant | NM_000111.3(SLC26A3):c.2071A>T (p.Ile691Phe) | Inborn genetic diseases [RCV004672380] | uncertain significance | 7 | 107767900 | 107767900 | Human | 1 | name |
| 407509458 | CV3474069 | single nucleotide variant | NM_000111.3(SLC26A3):c.1521A>T (p.Lys507Asn) | Inborn genetic diseases [RCV004672381] | uncertain significance | 7 | 107776700 | 107776700 | Human | 1 | name |
| 407509461 | CV3474070 | single nucleotide variant | NM_000111.3(SLC26A3):c.1415G>T (p.Trp472Leu) | Inborn genetic diseases [RCV004672382] | uncertain significance | 7 | 107778274 | 107778274 | Human | 1 | name |
| 407451314 | CV3474074 | single nucleotide variant | NM_000111.3(SLC26A3):c.1604T>C (p.Val535Ala) | Inborn genetic diseases [RCV004683626] | uncertain significance | 7 | 107776525 | 107776525 | Human | 1 | name |
| 407509468 | CV3474075 | single nucleotide variant | NM_000111.3(SLC26A3):c.2263G>A (p.Val755Ile) | Inborn genetic diseases [RCV004672385] | uncertain significance | 7 | 107767587 | 107767587 | Human | 1 | name |
| 597639715 | CV3606494 | single nucleotide variant | NM_000111.3(SLC26A3):c.1298C>T (p.Ala433Val) | Inborn genetic diseases [RCV004971292] | uncertain significance | 7 | 107782810 | 107782810 | Human | 1 | name |
| 597639718 | CV3606495 | single nucleotide variant | NM_000111.3(SLC26A3):c.2107G>A (p.Glu703Lys) | Inborn genetic diseases [RCV004971293] | uncertain significance | 7 | 107767864 | 107767864 | Human | 1 | name |
| 597639721 | CV3606496 | single nucleotide variant | NM_000111.3(SLC26A3):c.1258A>G (p.Ile420Val) | Inborn genetic diseases [RCV004971294] | uncertain significance | 7 | 107782850 | 107782850 | Human | 1 | name |
| 597639727 | CV3606499 | single nucleotide variant | NM_000111.3(SLC26A3):c.1582G>C (p.Asp528His) | Inborn genetic diseases [RCV004971296] | uncertain significance | 7 | 107776639 | 107776639 | Human | 1 | name |
| 597639736 | CV3606501 | single nucleotide variant | NM_000111.3(SLC26A3):c.2137A>G (p.Ile713Val) | Inborn genetic diseases [RCV004971298] | uncertain significance | 7 | 107767834 | 107767834 | Human | 1 | name |
| 597686553 | CV3718750 | duplication | NM_000111.3(SLC26A3):c.2100dup (p.Asp701Ter) | Congenital secretory diarrhea, chloride type [RCV005045908] | likely pathogenic | 7 | 107767870 | 107767871 | Human | 1 | name |
| 597686561 | CV3718752 | single nucleotide variant | NM_000111.3(SLC26A3):c.1954G>A (p.Asp652Asn) | Congenital secretory diarrhea, chloride type [RCV005045909] | likely pathogenic | 7 | 107773973 | 107773973 | Human | 1 | name |
| 597701226 | CV3718753 | single nucleotide variant | NM_000111.3(SLC26A3):c.1843G>A (p.Val615Ile) | Congenital secretory diarrhea, chloride type [RCV005033528] | uncertain significance | 7 | 107774084 | 107774084 | Human | 1 | name |
| 597701243 | CV3718755 | single nucleotide variant | NM_000111.3(SLC26A3):c.1409T>G (p.Leu470Ter) | Congenital secretory diarrhea, chloride type [RCV005033530] | likely pathogenic | 7 | 107778280 | 107778280 | Human | 1 | name |
| 597701251 | CV3718756 | single nucleotide variant | NM_000111.3(SLC26A3):c.1312T>C (p.Ser438Pro) | Congenital secretory diarrhea, chloride type [RCV005033531] | likely pathogenic | 7 | 107779763 | 107779763 | Human | 1 | name |
| 597686570 | CV3718757 | single nucleotide variant | NM_000111.3(SLC26A3):c.1120G>T (p.Glu374Ter) | Congenital secretory diarrhea, chloride type [RCV005045910] | likely pathogenic | 7 | 107783093 | 107783093 | Human | 1 | name |
| 597686576 | CV3718759 | single nucleotide variant | NM_000111.3(SLC26A3):c.1039G>A (p.Ala347Thr) | Congenital secretory diarrhea, chloride type [RCV005045911] | likely pathogenic | 7 | 107783285 | 107783285 | Human | 1 | name |
| 597856849 | CV3748099 | single nucleotide variant | NM_000111.3(SLC26A3):c.2233A>G (p.Ile745Val) | not provided [RCV005066921] | uncertain significance | 7 | 107767617 | 107767617 | Human | | name |
| 598169339 | CV3918318 | single nucleotide variant | NM_000111.3(SLC26A3):c.1849G>A (p.Asp617Asn) | Inborn genetic diseases [RCV005284252] | uncertain significance | 7 | 107774078 | 107774078 | Human | 1 | name |
| 14698170 | CV623296 | single nucleotide variant | NM_000111.3(SLC26A3):c.1082A>G (p.Tyr361Cys) | Congenital secretory diarrhea, chloride type [RCV000786874]|not provided [RCV001856209] | uncertain significance | 7 | 107783242 | 107783242 | Human | 1 | name |
| 8616700 | CV70601 | single nucleotide variant | NM_000111.3(SLC26A3):c.1028G>A (p.Cys343Tyr) | Congenital secretory diarrhea, chloride type [RCV000049371] | likely pathogenic | 7 | 107783296 | 107783296 | Human | 1 | name |
| 8616702 | CV70603 | single nucleotide variant | NM_000111.3(SLC26A3):c.1136G>C (p.Gly379Ala) | Congenital secretory diarrhea, chloride type [RCV000049373]|not provided [RCV001853036] | likely pathogenic|uncertain significance | 7 | 107783077 | 107783077 | Human | 1 | name |
| 8616704 | CV70605 | single nucleotide variant | NM_000111.3(SLC26A3):c.1306C>T (p.Gln436Ter) | Congenital secretory diarrhea, chloride type [RCV000049375] | pathogenic|likely pathogenic | 7 | 107782802 | 107782802 | Human | 1 | name |
| 8616707 | CV70608 | single nucleotide variant | NM_000111.3(SLC26A3):c.1360C>T (p.Gln454Ter) | Congenital secretory diarrhea, chloride type [RCV000049378] | likely pathogenic | 7 | 107779715 | 107779715 | Human | 1 | name |
| 8616709 | CV70610 | single nucleotide variant | NM_000111.3(SLC26A3):c.1387C>T (p.Arg463Ter) | Congenital secretory diarrhea, chloride type [RCV000049380]|not provided [RCV003556120] | pathogenic|likely pathogenic | 7 | 107779688 | 107779688 | Human | 1 | name |
| 8616710 | CV70611 | single nucleotide variant | NM_000111.3(SLC26A3):c.1403A>T (p.Asp468Val) | Congenital secretory diarrhea, chloride type [RCV000049381] | likely pathogenic | 7 | 107779672 | 107779672 | Human | 1 | name |
| 8616713 | CV70614 | single nucleotide variant | NM_000111.3(SLC26A3):c.1487T>G (p.Leu496Arg) | Congenital secretory diarrhea, chloride type [RCV000049384] | likely pathogenic | 7 | 107778202 | 107778202 | Human | 1 | name |
| 8616718 | CV70619 | single nucleotide variant | NM_000111.3(SLC26A3):c.1559A>G (p.Tyr520Cys) | Congenital secretory diarrhea, chloride type [RCV000049389]|not provided [RCV005089446] | likely pathogenic|uncertain significance | 7 | 107776662 | 107776662 | Human | 1 | name |
| 8616719 | CV70620 | single nucleotide variant | NM_000111.3(SLC26A3):c.1563G>C (p.Lys521Asn) | Congenital secretory diarrhea, chloride type [RCV000049390] | likely pathogenic | 7 | 107776658 | 107776658 | Human | 1 | name |
| 8616723 | CV70624 | single nucleotide variant | NM_000111.3(SLC26A3):c.1631T>A (p.Ile544Asn) | Congenital secretory diarrhea, chloride type [RCV000049394]|not provided [RCV003556122] | pathogenic|likely pathogenic | 7 | 107776498 | 107776498 | Human | 1 | name |
| 8616730 | CV70631 | single nucleotide variant | NM_000111.3(SLC26A3):c.2132T>G (p.Leu711Ter) | Congenital secretory diarrhea, chloride type [RCV000049401] | likely pathogenic | 7 | 107767839 | 107767839 | Human | 1 | name |
| 15124067 | CV710694 | single nucleotide variant | NM_000111.3(SLC26A3):c.1802T>C (p.Ile601Thr) | Congenital secretory diarrhea, chloride type [RCV001165378]|not provided [RCV000963353] | benign|likely benign | 7 | 107774125 | 107774125 | Human | 1 | name |
| 15201369 | CV722231 | single nucleotide variant | NM_000111.3(SLC26A3):c.2169G>C (p.Lys723Asn) | Congenital secretory diarrhea, chloride type [RCV001163253]|SLC26A3-related disorder [RCV003975629]|not provided [RCV000891173] | likely benign | 7 | 107767802 | 107767802 | Human | 1 | name , trait , alternate_id |
| 15166710 | CV722232 | single nucleotide variant | NM_000111.3(SLC26A3):c.1273G>A (p.Val425Ile) | Congenital secretory diarrhea, chloride type [RCV001161860]|Inborn genetic diseases [RCV005278687]|SLC26A3-related disorder [RCV003968009]|not provided [RCV000882689] | likely benign | 7 | 107782835 | 107782835 | Human | 2 | name , trait , alternate_id |
| 21071650 | CV790671 | single nucleotide variant | NM_000111.3(SLC26A3):c.1696C>T (p.Arg566Ter) | Congenital secretory diarrhea, chloride type [RCV000987941]|not provided [RCV002290501] | pathogenic | 7 | 107774854 | 107774854 | Human | 1 | name |
| 21069603 | CV795950 | single nucleotide variant | NM_000111.3(SLC26A3):c.1385G>A (p.Trp462Ter) | not provided [RCV000998891] | likely pathogenic | 7 | 107779690 | 107779690 | Human | | name |
| 28874463 | CV897216 | single nucleotide variant | NM_000111.3(SLC26A3):c.2013G>C (p.Leu671Phe) | Congenital secretory diarrhea, chloride type [RCV001165375] | uncertain significance | 7 | 107772103 | 107772103 | Human | 1 | name |
| 28874465 | CV897217 | single nucleotide variant | NM_000111.3(SLC26A3):c.1916T>A (p.Ile639Asn) | Congenital secretory diarrhea, chloride type [RCV001165376] | uncertain significance | 7 | 107774011 | 107774011 | Human | 1 | name |
| 28874469 | CV897218 | single nucleotide variant | NM_000111.3(SLC26A3):c.1865C>T (p.Thr622Ile) | Congenital secretory diarrhea, chloride type [RCV001165377]|not provided [RCV001859062] | uncertain significance | 7 | 107774062 | 107774062 | Human | 1 | name |
| 28905848 | CV897219 | single nucleotide variant | NM_000111.3(SLC26A3):c.1661G>A (p.Arg554Gln) | Congenital secretory diarrhea, chloride type [RCV001158651]|not provided [RCV002070955] | benign | 7 | 107776468 | 107776468 | Human | 1 | name |
| 28905851 | CV897221 | single nucleotide variant | NM_000111.3(SLC26A3):c.1388G>A (p.Arg463Gln) | Congenital secretory diarrhea, chloride type [RCV001158653]|not provided [RCV002032467] | uncertain significance | 7 | 107779687 | 107779687 | Human | 1 | name |
| 28867400 | CV897222 | single nucleotide variant | NM_000111.3(SLC26A3):c.1232A>T (p.Gln411Leu) | Congenital secretory diarrhea, chloride type [RCV001161862] | uncertain significance | 7 | 107782981 | 107782981 | Human | 1 | name |
| 40814191 | CV966710 | single nucleotide variant | NM_000111.3(SLC26A3):c.2006C>A (p.Ser669Ter) | Polyhydramnios [RCV001257348] | pathogenic | 7 | 107773921 | 107773921 | Human | 2 | name |
| 40814193 | CV966711 | single nucleotide variant | NM_000111.3(SLC26A3):c.1000G>T (p.Glu334Ter) | Polyhydramnios [RCV001257349] | pathogenic | 7 | 107783324 | 107783324 | Human | 2 | name |
| 8616712 | CV70613 | deletion | NM_000111.3(SLC26A3):c.145_157del (p.Lys49fs) | Congenital secretory diarrhea, chloride type [RCV000049383] | pathogenic|likely pathogenic | 7 | 107793856 | 107793868 | Human | 1 | name |
| 8616732 | CV70633 | duplication | NM_000111.3(SLC26A3):c.269_270dup (p.Gly91fs) | Congenital secretory diarrhea, chloride type [RCV000049403]|Polyhydramnios [RCV001257400]|not provided [RCV003556124] | pathogenic|likely pathogenic | 7 | 107793742 | 107793743 | Human | 7 | name |
| 405075505 | CV3031612 | deletion | NM_000111.3(SLC26A3):c.341_347del (p.Ile114fs) | not provided [RCV003698573] | pathogenic | 7 | 107791865 | 107791871 | Human | | name |
| 8600311 | CV31793 | deletion | NM_000111.3(SLC26A3):c.951_953del (p.Val318del) | Congenital secretory diarrhea, chloride type [RCV000018239]|not provided [RCV003556043] | pathogenic | 7 | 107786845 | 107786847 | Human | 1 | name |
| 8616720 | CV70621 | microsatellite | NM_000111.3(SLC26A3):c.1576TAT[1] (p.Tyr527del) | Congenital secretory diarrhea, chloride type [RCV000049391]|not provided [RCV002513681] | likely pathogenic|uncertain significance | 7 | 107776640 | 107776642 | Human | | name |
| 405248112 | CV2976981 | deletion | NM_000111.3(SLC26A3):c.1740_1752del (p.Leu581fs) | not provided [RCV003685819] | pathogenic | 7 | 107774798 | 107774810 | Human | | name |
| 405018609 | CV2991737 | deletion | NM_000111.3(SLC26A3):c.1718_1719del (p.Lys573fs) | not provided [RCV003694505] | pathogenic | 7 | 107774831 | 107774832 | Human | | name |
| 597701235 | CV3718754 | deletion | NM_000111.3(SLC26A3):c.1533_1536del (p.Ala512fs) | Congenital secretory diarrhea, chloride type [RCV005033529] | likely pathogenic | 7 | 107776685 | 107776688 | Human | 1 | name |
| 8616703 | CV70604 | deletion | NM_000111.3(SLC26A3):c.1148_1149del (p.Ile383fs) | Congenital secretory diarrhea, chloride type [RCV000049374]|not provided [RCV003556119] | pathogenic|likely pathogenic | 7 | 107783064 | 107783065 | Human | 1 | name |
| 8616706 | CV70607 | deletion | NM_000111.3(SLC26A3):c.1342_1343del (p.Leu448fs) | Congenital secretory diarrhea, chloride type [RCV000049377] | likely pathogenic | 7 | 107779732 | 107779733 | Human | 1 | name |
| 8616716 | CV70617 | deletion | NM_000111.3(SLC26A3):c.1526_1527del (p.Ser509fs) | Congenital secretory diarrhea, chloride type [RCV000049387] | likely pathogenic | 7 | 107776694 | 107776695 | Human | 1 | name |
| 8616717 | CV70618 | deletion | NM_000111.3(SLC26A3):c.1551_1554del (p.Asn518fs) | Congenital secretory diarrhea, chloride type [RCV000049388] | likely pathogenic | 7 | 107776667 | 107776670 | Human | 1 | name |
| 151832942 | CV1480669 | inversion | NM_000111.3(SLC26A3):c.1953_1954inv (p.Asp652Asn) | not provided [RCV001935240] | uncertain significance | 7 | 107773973 | 107773974 | Human | | name |
| 402489567 | CV2995745 | duplication | NM_000111.3(SLC26A3):c.1421_1422dup (p.Thr475Ter) | not provided [RCV003687401] | pathogenic | 7 | 107778266 | 107778267 | Human | | name |
| 8616726 | CV70627 | duplication | NM_000111.3(SLC26A3):c.2024_2026dup (p.Ile675dup) | Congenital secretory diarrhea, chloride type [RCV000049397]|not provided [RCV001682751] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters | 7 | 107772089 | 107772090 | Human | 1 | name |
| 8616722 | CV70623 | indel | NM_000111.3(SLC26A3):c.1624_1626delinsC (p.Ser542fs) | Congenital secretory diarrhea, chloride type [RCV000049393] | likely pathogenic | 7 | 107776503 | 107776505 | Human | | name |
| 405030541 | CV2926206 | deletion | NM_000111.3(SLC26A3):c.885del (p.Ile295_Met296insTer) | not provided [RCV003578327] | pathogenic | 7 | 107787360 | 107787360 | Human | | name |
| 405163954 | CV2905610 | indel | NM_000111.3(SLC26A3):c.1743_1744delinsAT (p.Gln582Ter) | not provided [RCV003562591] | pathogenic | 7 | 107774806 | 107774807 | Human | | name |
| 8616725 | CV70626 | deletion | NM_000111.3(SLC26A3):c.1990del (p.Ser663_Val664insTer) | Congenital secretory diarrhea, chloride type [RCV000049396] | likely pathogenic | 7 | 107773937 | 107773937 | Human | 1 | name |
| 405079166 | CV3050303 | deletion | NM_000111.3(SLC26A3):c.926_927del (p.Asp308_Phe309insTer) | Congenital secretory diarrhea, chloride type [RCV005036966]|not provided [RCV003717001] | pathogenic|likely pathogenic | 7 | 107786871 | 107786872 | Human | 1 | name |
| 8600313 | CV31797 | insertion | NM_000111.2(SLC26A3):c.2025_2026insATC (p.Ile675_Arg676insIle) | Congenital secretory diarrhea, chloride type [RCV000018243] | pathogenic | 7 | 107772090 | 107772091 | Human | | name |
| 8616701 | CV70602 | indel | NM_000111.3(SLC26A3):c.1030_1047delinsGATGCC (p.Phe344_Val349delinsAspAla) | Congenital secretory diarrhea, chloride type [RCV000049372] | likely pathogenic | 7 | 107783277 | 107783294 | Human | | name |
| 405211002 | CV2867829 | insertion | NM_000111.3(SLC26A3):c.839_840insACACTATGTTGAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAATAAATCA (p.Gln280_Arg281insHisTyrValGluTer) | not provided [RCV003552543] | pathogenic | 7 | 107787405 | 107787406 | Human | | name |
| 8616728 | CV70629 | indel | NM_000111.3(SLC26A3):c.2104_2105delinsACCGGTTTTGAAGTGAAAATTCAAAATTT (p.Gly702delinsThrGlyPheGluValLysIleGlnAsnPhe) | Congenital secretory diarrhea, chloride type [RCV000049399] | likely pathogenic | 7 | 107767866 | 107767867 | Human | | name |