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Pathways
Variants search result for All species
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835 records found for search term Slc26a3
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
8565819CV31799deletionSLC26A3, 13-BP DELCongenital secretory diarrhea, chloride type [RCV000018245]pathogenicHumanname
8565817CV31795deletionSLC26A3, 1-BP DEL, 344TCongenital secretory diarrhea, chloride type [RCV000018241]pathogenicHumanname
11611263CV304702single nucleotide variantNM_000111.3(SLC26A3):c.-40C>TCongenital secretory diarrhea, chloride type [RCV000392705]uncertain significance7107794549107794549Human1name
28908464CV897231single nucleotide variantNM_000111.3(SLC26A3):c.-90A>GCongenital secretory diarrhea, chloride type [RCV001160116]uncertain significance7107803112107803112Human1name
11582542CV301442single nucleotide variantNM_000111.3(SLC26A3):c.*386G>ACongenital secretory diarrhea, chloride type [RCV000260474]benign|uncertain significance7107765469107765469Human1name
11654483CV304686single nucleotide variantNM_000111.3(SLC26A3):c.*205G>CCongenital secretory diarrhea, chloride type [RCV000318107]uncertain significance7107765650107765650Human1name
11661325CV304694single nucleotide variantNM_000111.3(SLC26A3):c.*196T>CCongenital secretory diarrhea, chloride type [RCV000375058]uncertain significance7107765659107765659Human1name
11650324CV309309single nucleotide variantNM_000111.3(SLC26A3):c.*130C>TCongenital secretory diarrhea, chloride type [RCV000291887]uncertain significance7107765725107765725Human1name
28869798CV897214single nucleotide variantNM_000111.3(SLC26A3):c.*227A>GCongenital secretory diarrhea, chloride type [RCV001163251]uncertain significance7107765628107765628Human1name
28869802CV897215single nucleotide variantNM_000111.3(SLC26A3):c.*113T>CCongenital secretory diarrhea, chloride type [RCV001163252]likely benign7107765742107765742Human1name
28908466CV897232single nucleotide variantNM_000111.3(SLC26A3):c.-169C>TCongenital secretory diarrhea, chloride type [RCV001160117]uncertain significance7107803191107803191Human1name
151816259CV1378890single nucleotide variantNM_000111.3(SLC26A3):c.571-7T>Anot provided [RCV001900442]likely benign|uncertain significance7107789695107789695Humanname
151846640CV1495257single nucleotide variantNM_000111.3(SLC26A3):c.271+2T>Cnot provided [RCV001978369]likely pathogenic7107793740107793740Humanname
151864499CV1498765single nucleotide variantNM_000111.3(SLC26A3):c.570+3G>Anot provided [RCV001980548]uncertain significance7107791045107791045Humanname
152170832CV1536629single nucleotide variantNM_000111.3(SLC26A3):c.132-9T>Cnot provided [RCV002183291]likely benign7107793890107793890Humanname
152085369CV1620985single nucleotide variantNM_000111.3(SLC26A3):c.888+7G>Cnot provided [RCV002193563]likely benign7107787350107787350Humanname
402477283CV2853629single nucleotide variantNM_000111.3(SLC26A3):c.131+8A>Cnot provided [RCV003543548]likely benign7107794371107794371Humanname
402481404CV2864215single nucleotide variantNM_000111.3(SLC26A3):c.382+1G>Anot provided [RCV003544069]likely pathogenic7107791829107791829Humanname
405170052CV2911898deletionNM_000111.3(SLC26A3):c.736-2delnot provided [RCV003563046]likely pathogenic7107787511107787511Humanname
402469735CV2931163single nucleotide variantNM_000111.3(SLC26A3):c.570+1G>Tnot provided [RCV003570197]likely pathogenic7107791047107791047Humanname
405113756CV2939053single nucleotide variantNM_000111.3(SLC26A3):c.736-8A>Gnot provided [RCV003666537]likely benign7107787517107787517Humanname
405239355CV2983360single nucleotide variantNM_000111.3(SLC26A3):c.889-2A>Gnot provided [RCV003683641]likely pathogenic7107786911107786911Humanname
11596019CV301453single nucleotide variantNM_000111.3(SLC26A3):c.571-9T>CCongenital secretory diarrhea, chloride type [RCV000377355]|not provided [RCV002058646]likely benign|uncertain significance7107789697107789697Human1name
11653760CV301479single nucleotide variantNM_000111.3(SLC26A3):c.-88-9T>GCongenital secretory diarrhea, chloride type [RCV000312914]uncertain significance7107794606107794606Human1name
405003192CV3015420single nucleotide variantNM_000111.3(SLC26A3):c.383-9G>Anot provided [RCV003693286]likely benign7107791244107791244Humanname
405004607CV3016541single nucleotide variantNM_000111.3(SLC26A3):c.383-1G>Anot provided [RCV003693480]likely pathogenic7107791236107791236Humanname
405087966CV3024997single nucleotide variantNM_000111.3(SLC26A3):c.972-1G>Anot provided [RCV003699535]likely pathogenic7107783353107783353Humanname
405178828CV3027508single nucleotide variantNM_000111.3(SLC26A3):c.571-8C>Tnot provided [RCV003705267]likely benign7107789696107789696Humanname
11600146CV309346single nucleotide variantNM_000111.3(SLC26A3):c.889-6T>CCongenital secretory diarrhea, chloride type [RCV000271508]|SLC26A3-related disorder [RCV003970051]|not provided [RCV000958955]benign|likely benign7107786915107786915Human1name , trait , alternate_id
11611269CV309353single nucleotide variantNM_000111.3(SLC26A3):c.271+7T>ACongenital secretory diarrhea, chloride type [RCV000392859]|not provided [RCV000975941]likely benign|uncertain significance7107793735107793735Human1name
11648700CV309482single nucleotide variantNM_000111.3(SLC26A3):c.570+8C>TCongenital secretory diarrhea, chloride type [RCV000283103]uncertain significance7107791040107791040Human1name
405234000CV3157986single nucleotide variantNM_000111.3(SLC26A3):c.971+7G>Anot provided [RCV003865742]likely benign7107786820107786820Humanname
8616742CV70643single nucleotide variantNM_000111.3(SLC26A3):c.571-1G>TCongenital secretory diarrhea, chloride type [RCV000049413]|not provided [RCV001853038]pathogenic|likely pathogenic7107789689107789689Human1name
8616743CV70644single nucleotide variantNM_000111.3(SLC26A3):c.571-2A>GCongenital secretory diarrhea, chloride type [RCV000049414]|SLC26A3-related disorder [RCV003964905]|not provided [RCV000998892]pathogenic|likely pathogenic7107789690107789690Human1name , trait , alternate_id
28870122CV900301single nucleotide variantNM_000111.3(SLC26A3):c.888+5T>CCongenital secretory diarrhea, chloride type [RCV001163361]uncertain significance7107787352107787352Human1name
28870119CV900302single nucleotide variantNM_000111.3(SLC26A3):c.736-9T>CCongenital secretory diarrhea, chloride type [RCV001163362]|not provided [RCV002558567]likely benign|uncertain significance7107787518107787518Human1name
127307356CV1138303single nucleotide variantNM_000111.3(SLC26A3):c.735+12T>Cnot provided [RCV001500440]likely benign7107789512107789512Humanname
150338844CV1167403single nucleotide variantNM_000111.3(SLC26A3):c.735+37A>Tnot provided [RCV001533786]benign7107789487107789487Humanname
150507088CV1211087single nucleotide variantNM_000111.3(SLC26A3):c.272-84A>Gnot provided [RCV001596205]benign7107792024107792024Humanname
150433568CV1216953single nucleotide variantNM_000111.3(SLC26A3):c.383-32A>Gnot provided [RCV001608855]benign7107791267107791267Humanname
150435633CV1221696single nucleotide variantNM_000111.3(SLC26A3):c.383-96C>Gnot provided [RCV001609384]benign7107791331107791331Humanname
150460101CV1231284single nucleotide variantNM_000111.3(SLC26A3):c.132-65A>Gnot provided [RCV001640848]benign7107793946107793946Humanname
150469561CV1249115single nucleotide variantNM_000111.3(SLC26A3):c.570+80C>Anot provided [RCV001670877]benign7107790968107790968Humanname
150481490CV1265641single nucleotide variantNM_000111.3(SLC26A3):c.1312-1G>TCongenital secretory diarrhea, chloride type [RCV005040335]|not provided [RCV001682636]pathogenic|likely pathogenic7107779764107779764Human1name
150493355CV1281851single nucleotide variantNM_000111.3(SLC26A3):c.570+79C>Gnot provided [RCV001716989]benign7107790969107790969Humanname
151762661CV1356783single nucleotide variantNM_000111.3(SLC26A3):c.2007+5T>Cnot provided [RCV001970369]uncertain significance7107773915107773915Humanname
151867622CV1493673single nucleotide variantNM_000111.3(SLC26A3):c.1119+5G>Cnot provided [RCV001960019]uncertain significance7107783200107783200Humanname
152032241CV1548954single nucleotide variantNM_000111.3(SLC26A3):c.272-11T>Cnot provided [RCV002086538]likely benign7107791951107791951Humanname
152175897CV1580156single nucleotide variantNM_000111.3(SLC26A3):c.271+18T>Cnot provided [RCV002164035]likely benign7107793724107793724Humanname
152063152CV1594630single nucleotide variantNM_000111.3(SLC26A3):c.1515-7C>Tnot provided [RCV002110376]likely benign7107776713107776713Humanname
152066801CV1620244single nucleotide variantNM_000111.3(SLC26A3):c.1233+7C>Gnot provided [RCV002209455]likely benign7107782973107782973Humanname
152032449CV1643091single nucleotide variantNM_000111.3(SLC26A3):c.383-19T>Cnot provided [RCV002204972]likely benign7107791254107791254Humanname
152048745CV1656921single nucleotide variantNM_000111.3(SLC26A3):c.272-10G>Anot provided [RCV002189136]likely benign7107791950107791950Humanname
152119933CV1659336single nucleotide variantNM_000111.3(SLC26A3):c.271+17G>Anot provided [RCV002175435]likely benign7107793725107793725Humanname
152120617CV1662043deletionNM_000111.3(SLC26A3):c.271+14delnot provided [RCV002117804]benign7107793728107793728Humanname
152152257CV1664452single nucleotide variantNM_000111.3(SLC26A3):c.382+14T>Cnot provided [RCV002158367]likely benign7107791816107791816Humanname
155800764CV1860255single nucleotide variantNM_000111.3(SLC26A3):c.1514+1G>ACongenital secretory diarrhea, chloride type [RCV002466896]|not provided [RCV003775492]pathogenic7107778174107778174Human1name
156071654CV1959301single nucleotide variantNM_000111.3(SLC26A3):c.131+18G>Anot provided [RCV002569621]likely benign7107794361107794361Humanname
156282686CV1964447single nucleotide variantNM_000111.3(SLC26A3):c.1678-5C>Tnot provided [RCV002577530]likely benign7107774877107774877Humanname
156065013CV1975362duplicationNM_000111.3(SLC26A3):c.271+14dupnot provided [RCV002591098]benign7107793727107793728Humanname
156404949CV1994125single nucleotide variantNM_000111.3(SLC26A3):c.971+13T>Gnot provided [RCV002658181]likely benign7107786814107786814Humanname
156364686CV2013884single nucleotide variantNM_000111.3(SLC26A3):c.571-19G>Tnot provided [RCV002721102]likely benign7107789707107789707Humanname
156045597CV2026577single nucleotide variantNM_000111.3(SLC26A3):c.271+11T>Cnot provided [RCV002736338]likely benign7107793731107793731Humanname
156165209CV2045121single nucleotide variantNM_000111.3(SLC26A3):c.2063-5T>Cnot provided [RCV002741689]likely benign7107767913107767913Humanname
156138853CV2048269single nucleotide variantNM_000111.3(SLC26A3):c.570+19A>Gnot provided [RCV002800877]benign7107791029107791029Humanname
155943909CV2062052single nucleotide variantNM_000111.3(SLC26A3):c.131+20A>Gnot provided [RCV002815866]likely benign7107794359107794359Humanname
156071751CV2065798single nucleotide variantNM_000111.3(SLC26A3):c.132-17G>Tnot provided [RCV002847095]likely benign7107793898107793898Humanname
156369816CV2109660single nucleotide variantNM_000111.3(SLC26A3):c.2206-8T>Cnot provided [RCV002942236]benign7107767652107767652Humanname
156331128CV2171796single nucleotide variantNM_000111.3(SLC26A3):c.1774-9C>Tnot provided [RCV003029775]likely benign7107774162107774162Humanname
156006698CV2175566single nucleotide variantNM_000111.3(SLC26A3):c.1678-6T>Cnot provided [RCV003035029]likely benign7107774878107774878Humanname
405045570CV2859714single nucleotide variantNM_000111.3(SLC26A3):c.971+17T>Cnot provided [RCV003579312]likely benign7107786810107786810Humanname
402481683CV2860465duplicationNM_000111.3(SLC26A3):c.972-10dupnot provided [RCV003544098]likely benign7107783361107783362Humanname
402520038CV2870945single nucleotide variantNM_000111.3(SLC26A3):c.570+10T>Cnot provided [RCV003547616]likely benign7107791038107791038Humanname
405206647CV2873975single nucleotide variantNM_000111.3(SLC26A3):c.1120-1G>Anot provided [RCV003552027]likely pathogenic7107783094107783094Humanname
405064997CV2878895single nucleotide variantNM_000111.3(SLC26A3):c.736-12T>Cnot provided [RCV003548099]likely benign7107787521107787521Humanname
405054997CV2890175single nucleotide variantNM_000111.3(SLC26A3):c.1234-4A>Gnot provided [RCV003580019]likely benign7107782878107782878Humanname
405227043CV2892271single nucleotide variantNM_000111.3(SLC26A3):c.1585-8C>Anot provided [RCV003554698]likely benign7107776552107776552Humanname
405218146CV2897308single nucleotide variantNM_000111.3(SLC26A3):c.889-10A>Gnot provided [RCV003567933]likely benign7107786919107786919Humanname
405132933CV2905236single nucleotide variantNM_000111.3(SLC26A3):c.1408-6T>Cnot provided [RCV003560033]likely benign7107778287107778287Humanname
402481874CV2911078deletionNM_000111.3(SLC26A3):c.971+18delnot provided [RCV003572084]likely benign7107786809107786809Humanname
405187299CV2917663single nucleotide variantNM_000111.3(SLC26A3):c.272-12G>Tnot provided [RCV003564554]likely benign7107791952107791952Humanname
405033566CV2922585deletionNM_000111.3(SLC26A3):c.570+14delnot provided [RCV003578454]likely benign7107791034107791034Humanname
405035843CV2923603single nucleotide variantNM_000111.3(SLC26A3):c.2008-9T>Gnot provided [RCV003578695]likely benign7107772117107772117Humanname
402503155CV2932563single nucleotide variantNM_000111.3(SLC26A3):c.271+20T>Cnot provided [RCV003574132]likely benign7107793722107793722Humanname
405065455CV2937117single nucleotide variantNM_000111.3(SLC26A3):c.971+15G>Anot provided [RCV003663602]likely benign7107786812107786812Humanname
402482229CV2940725single nucleotide variantNM_000111.3(SLC26A3):c.383-12A>Gnot provided [RCV003659667]likely benign7107791247107791247Humanname
402497148CV2942862single nucleotide variantNM_000111.3(SLC26A3):c.1311+7C>Gnot provided [RCV003661193]likely benign7107782790107782790Humanname
402485533CV2944920single nucleotide variantNM_000111.3(SLC26A3):c.2272-4C>Tnot provided [RCV003659964]likely benign7107765882107765882Humanname
405094480CV2947319single nucleotide variantNM_000111.3(SLC26A3):c.1312-4A>Gnot provided [RCV003665528]likely benign7107779767107779767Humanname
405160791CV2955005single nucleotide variantNM_000111.3(SLC26A3):c.2063-4T>Cnot provided [RCV003670617]likely benign7107767912107767912Humanname
405181267CV2956297single nucleotide variantNM_000111.3(SLC26A3):c.1233+8A>Tnot provided [RCV003676242]likely benign7107782972107782972Humanname
405150367CV2959560single nucleotide variantNM_000111.3(SLC26A3):c.571-20G>Tnot provided [RCV003673876]likely benign7107789708107789708Humanname
405221867CV2966264single nucleotide variantNM_000111.3(SLC26A3):c.2007+8C>Tnot provided [RCV003680789]likely benign7107773912107773912Humanname
405215622CV2967779single nucleotide variantNM_000111.3(SLC26A3):c.272-16G>Anot provided [RCV003679915]likely benign7107791956107791956Humanname
405222281CV2976251single nucleotide variantNM_000111.3(SLC26A3):c.1120-6T>Cnot provided [RCV003680867]likely benign7107783099107783099Humanname
405010770CV2987013single nucleotide variantNM_000111.3(SLC26A3):c.1585-5T>Anot provided [RCV003693888]likely benign7107776549107776549Humanname
402497794CV2988936deletionNM_000111.3(SLC26A3):c.2008-6delnot provided [RCV003714430]benign7107772114107772114Humanname
404996114CV2992495single nucleotide variantNM_000111.3(SLC26A3):c.889-11C>Anot provided [RCV003692722]likely benign7107786920107786920Humanname
405117499CV2992861single nucleotide variantNM_000111.3(SLC26A3):c.735+17C>Tnot provided [RCV003723444]likely benign7107789507107789507Humanname
405206851CV2994202single nucleotide variantNM_000111.3(SLC26A3):c.1233+9A>Tnot provided [RCV003678781]likely benign7107782971107782971Humanname
405023148CV3002683single nucleotide variantNM_000111.3(SLC26A3):c.2007+2T>Gnot provided [RCV003694914]likely pathogenic7107773918107773918Humanname
405249161CV3003792single nucleotide variantNM_000111.3(SLC26A3):c.271+14T>Cnot provided [RCV003721187]likely benign7107793728107793728Humanname
404981592CV3006342single nucleotide variantNM_000111.3(SLC26A3):c.1584+9G>Anot provided [RCV003691246]likely benign7107776628107776628Humanname
405035889CV3006846single nucleotide variantNM_000111.3(SLC26A3):c.971+19A>Gnot provided [RCV003695855]likely benign7107786808107786808Humanname
402521379CV3011182single nucleotide variantNM_000111.3(SLC26A3):c.1234-1G>Anot provided [RCV003716457]likely pathogenic7107782875107782875Humanname
405041815CV3013678single nucleotide variantNM_000111.3(SLC26A3):c.1677+8T>Gnot provided [RCV003696251]likely benign7107776444107776444Humanname
405127437CV3013817single nucleotide variantNM_000111.3(SLC26A3):c.1408-5C>Tnot provided [RCV003701349]likely benign7107778286107778286Humanname
405028479CV3015531single nucleotide variantNM_000111.3(SLC26A3):c.889-16A>Cnot provided [RCV003695340]likely benign7107786925107786925Humanname
405164278CV3018091single nucleotide variantNM_000111.3(SLC26A3):c.2062+8G>Anot provided [RCV003704159]likely benign7107772046107772046Humanname
405125767CV3021212single nucleotide variantNM_000111.3(SLC26A3):c.1234-8C>Tnot provided [RCV003701136]likely benign7107782882107782882Humanname
405177600CV3023775single nucleotide variantNM_000111.3(SLC26A3):c.383-16A>Gnot provided [RCV003705127]likely benign7107791251107791251Humanname
405142513CV3026418single nucleotide variantNM_000111.3(SLC26A3):c.735+18C>Tnot provided [RCV003702570]likely benign7107789506107789506Humanname
405198221CV3032642single nucleotide variantNM_000111.3(SLC26A3):c.888+16C>Gnot provided [RCV003707104]likely benign7107787341107787341Humanname
405204110CV3033341single nucleotide variantNM_000111.3(SLC26A3):c.1585-8C>Tnot provided [RCV003707721]likely benign7107776552107776552Humanname
405209717CV3037346single nucleotide variantNM_000111.3(SLC26A3):c.2206-9T>Cnot provided [RCV003708415]likely benign7107767653107767653Humanname
402509530CV3042301single nucleotide variantNM_000111.3(SLC26A3):c.888+17A>Gnot provided [RCV003715478]likely benign7107787340107787340Humanname
405144742CV3056207single nucleotide variantNM_000111.3(SLC26A3):c.2007+9T>Cnot provided [RCV003725888]likely benign7107773911107773911Humanname
405149240CV3067474single nucleotide variantNM_000111.3(SLC26A3):c.1585-9G>Anot provided [RCV003726213]likely benign7107776553107776553Humanname
11607722CV309467deletionNM_000111.3(SLC26A3):c.2272-3delCongenital secretory diarrhea, chloride type [RCV000346787]|not provided [RCV002058643]likely benign|uncertain significance7107765881107765881Human1name
405133932CV3115263single nucleotide variantNM_000111.3(SLC26A3):c.570+17G>Anot provided [RCV003816108]likely benign7107791031107791031Humanname
405121807CV3116640duplicationNM_000111.3(SLC26A3):c.2063-9dupnot provided [RCV003814942]benign7107767916107767917Humanname
405147862CV3126566single nucleotide variantNM_000111.3(SLC26A3):c.971+14C>Tnot provided [RCV003817293]likely benign7107786813107786813Humanname
405199850CV3128797single nucleotide variantNM_000111.3(SLC26A3):c.271+19A>Gnot provided [RCV003821840]likely benign7107793723107793723Humanname
405019631CV3129087single nucleotide variantNM_000111.3(SLC26A3):c.271+14T>Anot provided [RCV003829650]likely benign7107793728107793728Humanname
405141776CV3131209single nucleotide variantNM_000111.3(SLC26A3):c.1774-4G>Anot provided [RCV003839249]likely benign7107774157107774157Humanname
405052254CV3138286single nucleotide variantNM_000111.3(SLC26A3):c.735+18C>Gnot provided [RCV003832130]likely benign7107789506107789506Humanname
405021375CV3139185single nucleotide variantNM_000111.3(SLC26A3):c.971+20T>Cnot provided [RCV003829827]likely benign7107786807107786807Humanname
405021764CV3139218single nucleotide variantNM_000111.3(SLC26A3):c.2063-9T>Cnot provided [RCV003829860]likely benign7107767917107767917Humanname
405180770CV3147401single nucleotide variantNM_000111.3(SLC26A3):c.736-10A>Gnot provided [RCV003842303]likely benign7107787519107787519Humanname
405187993CV3149166single nucleotide variantNM_000111.3(SLC26A3):c.736-18T>Cnot provided [RCV003843092]likely benign7107787527107787527Humanname
405162999CV3153167single nucleotide variantNM_000111.3(SLC26A3):c.2206-2A>Gnot provided [RCV003840902]likely pathogenic7107767646107767646Humanname
405046158CV3154477single nucleotide variantNM_000111.3(SLC26A3):c.570+16T>Anot provided [RCV003849153]likely benign7107791032107791032Humanname
405144887CV3155746single nucleotide variantNM_000111.3(SLC26A3):c.971+10T>Cnot provided [RCV003855788]likely benign7107786817107786817Humanname
405247370CV3158677single nucleotide variantNM_000111.3(SLC26A3):c.382+16A>Tnot provided [RCV003869019]likely benign7107791814107791814Humanname
405238006CV3165429single nucleotide variantNM_000111.3(SLC26A3):c.1312-5C>Tnot provided [RCV003866631]likely benign7107779768107779768Humanname
405194602CV3167615single nucleotide variantNM_000111.3(SLC26A3):c.889-20G>Cnot provided [RCV003860021]likely benign7107786929107786929Humanname
402524794CV3175869single nucleotide variantNM_000111.3(SLC26A3):c.972-19T>Gnot provided [RCV003879969]likely benign7107783371107783371Humanname
402502671CV3181114single nucleotide variantNM_000111.3(SLC26A3):c.1514+2T>Cnot provided [RCV003878131]pathogenic7107778173107778173Humanname
405268835CV3201112single nucleotide variantNM_000111.3(SLC26A3):c.1677+1G>ASLC26A3-related disorder [RCV003899220]|not provided [RCV005101524]pathogenic|likely pathogenic7107776451107776451Human1name , trait , alternate_id
597701260CV3718758single nucleotide variantNM_000111.3(SLC26A3):c.1120-2A>GCongenital secretory diarrhea, chloride type [RCV005033532]likely pathogenic7107783095107783095Human1name
597870291CV3768152single nucleotide variantNM_000111.3(SLC26A3):c.735+11C>Gnot provided [RCV005122531]likely benign7107789513107789513Humanname
597941418CV3769180single nucleotide variantNM_000111.3(SLC26A3):c.2272-6T>Cnot provided [RCV005118675]likely benign7107765884107765884Humanname
597924667CV3772597single nucleotide variantNM_000111.3(SLC26A3):c.383-17C>Tnot provided [RCV005115747]likely benign7107791252107791252Humanname
597877446CV3776005single nucleotide variantNM_000111.3(SLC26A3):c.889-20G>Anot provided [RCV005123532]likely benign7107786929107786929Humanname
597879052CV3813772single nucleotide variantNM_000111.3(SLC26A3):c.571-20G>Anot provided [RCV005149514]likely benign7107789708107789708Humanname
597969525CV3821541single nucleotide variantNM_000111.3(SLC26A3):c.1585-7C>Tnot provided [RCV005166183]likely benign7107776551107776551Humanname
597964060CV3830377single nucleotide variantNM_000111.3(SLC26A3):c.272-18C>Tnot provided [RCV005164517]likely benign7107791958107791958Humanname
8616705CV70606single nucleotide variantNM_000111.3(SLC26A3):c.1312-1G>ACongenital secretory diarrhea, chloride type [RCV000049376]likely pathogenic7107779764107779764Human1name
8616711CV70612single nucleotide variantNM_000111.3(SLC26A3):c.1408-1G>ACongenital secretory diarrhea, chloride type [RCV000049382]likely pathogenic7107778282107778282Human1name
8616714CV70615deletionNM_000111.3(SLC26A3):c.1515-2delCongenital secretory diarrhea, chloride type [RCV000049385]likely pathogenic7107776708107776708Human1name
8616727CV70628single nucleotide variantNM_000111.3(SLC26A3):c.2063-1G>TCongenital secretory diarrhea, chloride type [RCV000049398]|not provided [RCV001853037]pathogenic|likely pathogenic7107767909107767909Human1name
8616731CV70632single nucleotide variantNM_000111.3(SLC26A3):c.2205+3A>GCongenital secretory diarrhea, chloride type [RCV000049402]likely pathogenic7107767763107767763Human1name
28867398CV900299single nucleotide variantNM_000111.3(SLC26A3):c.1234-9T>ACongenital secretory diarrhea, chloride type [RCV001161861]|SLC26A3-related disorder [RCV003918747]|not provided [RCV002071006]likely benign|uncertain significance7107782883107782883Human1name , trait , alternate_id
28867402CV900300single nucleotide variantNM_000111.3(SLC26A3):c.972-14A>CCongenital secretory diarrhea, chloride type [RCV001161863]|not provided [RCV001520262]benign|likely benign7107783366107783366Human1name
28908462CV900303single nucleotide variantNM_000111.3(SLC26A3):c.-89+12A>GCongenital secretory diarrhea, chloride type [RCV001160115]uncertain significance7107803099107803099Human1name
127281109CV1095840single nucleotide variantNM_000111.3(SLC26A3):c.1311+20G>Anot provided [RCV001446897]likely benign7107782777107782777Humanname
8649058CV116877single nucleotide variantNM_000111.2(SLC26A3):c.736-572G>ALung cancer [RCV000097400]uncertain significance7107788081107788081Humanname
8649059CV116878single nucleotide variantNM_000111.2(SLC26A3):c.736-579T>ALung cancer [RCV000097401]uncertain significance7107788088107788088Humanname
150333338CV1171649duplicationNM_000111.3(SLC26A3):c.971+199dupnot provided [RCV001539444]benign7107786613107786614Humanname
150423966CV1183911single nucleotide variantNM_000111.3(SLC26A3):c.971+145C>Tnot provided [RCV001556028]likely benign7107786682107786682Humanname
150420833CV1193865single nucleotide variantNM_000111.3(SLC26A3):c.1408-56G>Anot provided [RCV001570291]likely benign7107778337107778337Humanname
150509100CV1214214single nucleotide variantNM_000111.3(SLC26A3):c.735+218C>Tnot provided [RCV001596735]benign7107789306107789306Humanname
150444860CV1215395single nucleotide variantNM_000111.3(SLC26A3):c.-88-145G>Anot provided [RCV001610988]benign7107794742107794742Humanname
150437415CV1220717single nucleotide variantNM_000111.3(SLC26A3):c.271+235A>Gnot provided [RCV001609702]benign7107793507107793507Humanname
150493339CV1225646single nucleotide variantNM_000111.3(SLC26A3):c.570+206T>Cnot provided [RCV001619162]benign7107790842107790842Humanname
150476323CV1251843deletionNM_000111.3(SLC26A3):c.971+213delnot provided [RCV001672042]benign7107786614107786614Humanname
150468886CV1259565single nucleotide variantNM_000111.3(SLC26A3):c.2007+51A>Cnot provided [RCV001683865]benign7107773869107773869Humanname
150455729CV1259908single nucleotide variantNM_000111.3(SLC26A3):c.972-110A>Gnot provided [RCV001681387]benign7107783462107783462Humanname
150493067CV1267070single nucleotide variantNM_000111.3(SLC26A3):c.271+272C>Tnot provided [RCV001688097]benign7107793470107793470Humanname
150491391CV1267769single nucleotide variantNM_000111.3(SLC26A3):c.571-255C>Anot provided [RCV001687794]benign7107789943107789943Humanname
150469871CV1268169duplicationNM_000111.3(SLC26A3):c.1677+41dupnot provided [RCV001695033]benign7107776410107776411Humanname
150483171CV1280150single nucleotide variantNM_000111.3(SLC26A3):c.971+176A>Cnot provided [RCV001715143]benign7107786651107786651Humanname
150531487CV1291234single nucleotide variantNM_000111.3(SLC26A3):c.-88-205A>Gnot provided [RCV001733093]likely benign7107794802107794802Humanname
152142867CV1538308single nucleotide variantNM_000111.3(SLC26A3):c.1408-20G>Cnot provided [RCV002219605]likely benign7107778301107778301Humanname
152059083CV1540420single nucleotide variantNM_000111.3(SLC26A3):c.1584+12T>Cnot provided [RCV002109893]likely benign7107776625107776625Humanname
152080942CV1546640single nucleotide variantNM_000111.3(SLC26A3):c.1119+12A>Gnot provided [RCV002130806]likely benign7107783193107783193Humanname
152143332CV1556943single nucleotide variantNM_000111.3(SLC26A3):c.1678-18C>Tnot provided [RCV002200864]likely benign7107774890107774890Humanname
152137540CV1580431single nucleotide variantNM_000111.3(SLC26A3):c.1408-14C>Anot provided [RCV002156329]likely benign7107778295107778295Humanname
152136136CV1595090single nucleotide variantNM_000111.3(SLC26A3):c.2008-20T>Cnot provided [RCV002199966]likely benign7107772128107772128Humanname
152143156CV1596659single nucleotide variantNM_000111.3(SLC26A3):c.1774-12C>Tnot provided [RCV002157034]likely benign7107774165107774165Humanname
152058919CV1597340single nucleotide variantNM_000111.3(SLC26A3):c.1120-19A>Gnot provided [RCV002128112]likely benign7107783112107783112Humanname
152059413CV1597603single nucleotide variantNM_000111.3(SLC26A3):c.1119+20T>Gnot provided [RCV002128163]likely benign7107783185107783185Humanname
152064405CV1606845single nucleotide variantNM_000111.3(SLC26A3):c.1585-16C>Gnot provided [RCV002209117]likely benign7107776560107776560Humanname
152050627CV1606952single nucleotide variantNM_000111.3(SLC26A3):c.1120-20C>Tnot provided [RCV002108922]likely benign7107783113107783113Humanname
152036590CV1609856single nucleotide variantNM_000111.3(SLC26A3):c.1311+11C>Anot provided [RCV002165045]likely benign7107782786107782786Humanname
152064259CV1612245single nucleotide variantNM_000111.3(SLC26A3):c.1312-12T>Gnot provided [RCV002128748]likely benign7107779775107779775Humanname
152080033CV1612629single nucleotide variantNM_000111.3(SLC26A3):c.1408-20G>Anot provided [RCV002170418]likely benign7107778301107778301Humanname
152168988CV1614027single nucleotide variantNM_000111.3(SLC26A3):c.1677+16A>Tnot provided [RCV002161298]likely benign7107776436107776436Humanname
152105390CV1622888single nucleotide variantNM_000111.3(SLC26A3):c.1234-16T>Cnot provided [RCV002214736]likely benign7107782890107782890Humanname
152139373CV1624965single nucleotide variantNM_000111.3(SLC26A3):c.1677+13G>Anot provided [RCV002219172]likely benign7107776439107776439Humanname
152152622CV1631126single nucleotide variantNM_000111.3(SLC26A3):c.1120-16C>Tnot provided [RCV002139751]likely benign7107783109107783109Humanname
155268229CV1705304single nucleotide variantNM_000111.3(SLC26A3):c.2063-21T>Gnot provided [RCV002285909]likely benign7107767929107767929Humanname
156245556CV1992749single nucleotide variantNM_000111.3(SLC26A3):c.2008-16C>Anot provided [RCV002627281]likely benign7107772124107772124Humanname
156088702CV1994190single nucleotide variantNM_000111.3(SLC26A3):c.1514+12A>Tnot provided [RCV002639141]likely benign7107778163107778163Humanname
156089506CV2016262single nucleotide variantNM_000111.3(SLC26A3):c.1585-15T>Cnot provided [RCV002706261]likely benign7107776559107776559Humanname
156018057CV2019179single nucleotide variantNM_000111.3(SLC26A3):c.1678-13A>Gnot provided [RCV002690863]uncertain significance7107774885107774885Humanname
156270468CV2055948single nucleotide variantNM_000111.3(SLC26A3):c.1774-10T>Cnot provided [RCV002806643]likely benign7107774163107774163Humanname
156161036CV2074251single nucleotide variantNM_000111.3(SLC26A3):c.2272-19A>Gnot provided [RCV002851211]likely benign7107765897107765897Humanname
156113572CV2154344single nucleotide variantNM_000111.3(SLC26A3):c.1234-17T>Cnot provided [RCV003021512]likely benign7107782891107782891Humanname
405171814CV2854284single nucleotide variantNM_000111.3(SLC26A3):c.1119+20T>Anot provided [RCV003542098]likely benign7107783185107783185Humanname
402516548CV2856680single nucleotide variantNM_000111.3(SLC26A3):c.2206-11C>Gnot provided [RCV003575460]likely benign7107767655107767655Humanname
405169225CV2857758single nucleotide variantNM_000111.3(SLC26A3):c.1233+17G>Cnot provided [RCV003541913]likely benign7107782963107782963Humanname
405083848CV2865012deletionNM_000111.3(SLC26A3):c.1233+13delnot provided [RCV003549370]likely benign7107782967107782967Humanname
405096288CV2874942single nucleotide variantNM_000111.3(SLC26A3):c.1677+20A>Tnot provided [RCV003550244]likely benign7107776432107776432Humanname
405115672CV2896795single nucleotide variantNM_000111.3(SLC26A3):c.2271+19T>Cnot provided [RCV003558356]likely benign7107767560107767560Humanname
405170636CV2911864single nucleotide variantNM_000111.3(SLC26A3):c.1584+14A>Cnot provided [RCV003563031]likely benign7107776623107776623Humanname
405205228CV2912576single nucleotide variantNM_000111.3(SLC26A3):c.1514+10C>Gnot provided [RCV003566348]likely benign7107778165107778165Humanname
405007549CV2929547single nucleotide variantNM_000111.3(SLC26A3):c.2062+12T>Cnot provided [RCV003576353]likely benign7107772042107772042Humanname
405087803CV2943342single nucleotide variantNM_000111.3(SLC26A3):c.1312-14T>Cnot provided [RCV003665073]likely benign7107779777107779777Humanname
402492407CV2945714single nucleotide variantNM_000111.3(SLC26A3):c.2206-15T>Cnot provided [RCV003660605]likely benign7107767659107767659Humanname
405148337CV2960135single nucleotide variantNM_000111.3(SLC26A3):c.1774-11C>Tnot provided [RCV003669833]likely benign7107774164107774164Humanname
405164297CV2960514single nucleotide variantNM_000111.3(SLC26A3):c.1407+11G>Anot provided [RCV003674846]likely benign7107779657107779657Humanname
405211052CV2966790single nucleotide variantNM_000111.3(SLC26A3):c.2271+14A>Gnot provided [RCV003679341]likely benign7107767565107767565Humanname
405217510CV2972216single nucleotide variantNM_000111.3(SLC26A3):c.2008-16C>Tnot provided [RCV003680156]likely benign7107772124107772124Humanname
405198574CV2973154deletionNM_000111.3(SLC26A3):c.1119+13delnot provided [RCV003677949]likely benign7107783192107783192Humanname
405233995CV2975363single nucleotide variantNM_000111.3(SLC26A3):c.2205+12T>Cnot provided [RCV003682636]likely benign7107767754107767754Humanname
405215442CV2981500single nucleotide variantNM_000111.3(SLC26A3):c.1120-18T>Cnot provided [RCV003709171]likely benign7107783111107783111Humanname
404984509CV2989726single nucleotide variantNM_000111.3(SLC26A3):c.2271+17G>Cnot provided [RCV003691553]likely benign7107767562107767562Humanname
405205372CV2990597single nucleotide variantNM_000111.3(SLC26A3):c.2205+11T>Cnot provided [RCV003678580]likely benign7107767755107767755Humanname
402510241CV2994613single nucleotide variantNM_000111.3(SLC26A3):c.1407+16A>Cnot provided [RCV003689402]likely benign7107779652107779652Humanname
402486283CV2998836single nucleotide variantNM_000111.3(SLC26A3):c.1677+13G>Cnot provided [RCV003687013]likely benign7107776439107776439Humanname
402493752CV3008502single nucleotide variantNM_000111.3(SLC26A3):c.1773+11T>Cnot provided [RCV003687743]likely benign7107774766107774766Humanname
402494876CV3008540single nucleotide variantNM_000111.3(SLC26A3):c.1678-17A>Tnot provided [RCV003687763]likely benign7107774889107774889Humanname
404998559CV3008887duplicationNM_000111.3(SLC26A3):c.2062+18dupnot provided [RCV003692950]benign7107772035107772036Humanname
405033038CV3009050single nucleotide variantNM_000111.3(SLC26A3):c.1515-20T>Cnot provided [RCV003695630]likely benign7107776726107776726Humanname
405038486CV3013355single nucleotide variantNM_000111.3(SLC26A3):c.1515-17T>Cnot provided [RCV003696087]likely benign7107776723107776723Humanname
11635574CV301449duplicationNM_000111.3(SLC26A3):c.1234-17dupCongenital secretory diarrhea, chloride type [RCV000369394]|not provided [RCV001516405]benign|likely benign7107782884107782885Human1name
405114948CV3019267single nucleotide variantNM_000111.3(SLC26A3):c.1120-19A>Tnot provided [RCV003700128]likely benign7107783112107783112Humanname
405060493CV3019942deletionNM_000111.3(SLC26A3):c.2008-19delnot provided [RCV003697589]likely benign7107772127107772127Humanname
405132191CV3021828single nucleotide variantNM_000111.3(SLC26A3):c.1119+19C>Tnot provided [RCV003701733]likely benign7107783186107783186Humanname
405070775CV3031090single nucleotide variantNM_000111.3(SLC26A3):c.2008-18T>Cnot provided [RCV003698239]likely benign7107772126107772126Humanname
402486280CV3033864single nucleotide variantNM_000111.3(SLC26A3):c.1311+10T>Cnot provided [RCV003713277]likely benign7107782787107782787Humanname
405218660CV3037919single nucleotide variantNM_000111.3(SLC26A3):c.2206-20T>Cnot provided [RCV003709524]likely benign7107767664107767664Humanname
402499527CV3038281single nucleotide variantNM_000111.3(SLC26A3):c.1515-16G>Anot provided [RCV003714529]likely benign7107776722107776722Humanname
405227686CV3039617single nucleotide variantNM_000111.3(SLC26A3):c.1407+15T>Cnot provided [RCV003710924]likely benign7107779653107779653Humanname
402482525CV3041675single nucleotide variantNM_000111.3(SLC26A3):c.1119+16A>Gnot provided [RCV003712930]likely benign7107783189107783189Humanname
402510713CV3042527single nucleotide variantNM_000111.3(SLC26A3):c.1585-13C>Anot provided [RCV003715645]likely benign7107776557107776557Humanname
402511658CV3042543single nucleotide variantNM_000111.3(SLC26A3):c.1774-16T>Cnot provided [RCV003715655]likely benign7107774169107774169Humanname
11611151CV309476single nucleotide variantNM_000111.3(SLC26A3):c.1677+10G>ACongenital secretory diarrhea, chloride type [RCV000391208]|not provided [RCV001511136]benign|uncertain significance7107776442107776442Human1name
405112843CV3118610single nucleotide variantNM_000111.3(SLC26A3):c.1407+18T>Cnot provided [RCV003813838]likely benign7107779650107779650Humanname
405060494CV3129450single nucleotide variantNM_000111.3(SLC26A3):c.2063-10T>Cnot provided [RCV003832719]likely benign7107767918107767918Humanname
405135928CV3130506single nucleotide variantNM_000111.3(SLC26A3):c.2271+13A>Cnot provided [RCV003838739]likely benign7107767566107767566Humanname
405081613CV3137193single nucleotide variantNM_000111.3(SLC26A3):c.2063-15T>Cnot provided [RCV003834092]likely benign7107767923107767923Humanname
405082726CV3137447single nucleotide variantNM_000111.3(SLC26A3):c.1311+15G>Anot provided [RCV003834156]likely benign7107782782107782782Humanname
405231342CV3144407single nucleotide variantNM_000111.3(SLC26A3):c.1677+18T>Gnot provided [RCV003852860]likely benign7107776434107776434Humanname
405210637CV3145916single nucleotide variantNM_000111.3(SLC26A3):c.1774-19T>Cnot provided [RCV003845646]likely benign7107774172107774172Humanname
405198366CV3146763single nucleotide variantNM_000111.3(SLC26A3):c.2205+10C>Tnot provided [RCV003844118]likely benign7107767756107767756Humanname
405166313CV3149426single nucleotide variantNM_000111.3(SLC26A3):c.2063-17T>Cnot provided [RCV003841088]likely benign7107767925107767925Humanname
405231113CV3157235single nucleotide variantNM_000111.3(SLC26A3):c.1773+11T>Gnot provided [RCV003865185]likely benign7107774766107774766Humanname
405182892CV3159602single nucleotide variantNM_000111.3(SLC26A3):c.1514+12A>Gnot provided [RCV003858853]likely benign7107778163107778163Humanname
405246444CV3162240single nucleotide variantNM_000111.3(SLC26A3):c.2008-17A>Gnot provided [RCV003868759]likely benign7107772125107772125Humanname
402465761CV3177262single nucleotide variantNM_000111.3(SLC26A3):c.1774-13T>Anot provided [RCV003872893]likely benign7107774166107774166Humanname
597971589CV3750774single nucleotide variantNM_000111.3(SLC26A3):c.2205+13T>Cnot provided [RCV005084518]likely benign7107767753107767753Humanname
597916400CV3771544single nucleotide variantNM_000111.3(SLC26A3):c.1678-12T>Cnot provided [RCV005114475]likely benign7107774884107774884Humanname
597871560CV3806023single nucleotide variantNM_000111.3(SLC26A3):c.1773+10T>Cnot provided [RCV005148433]likely benign7107774767107774767Humanname
597939861CV3818736single nucleotide variantNM_000111.3(SLC26A3):c.1407+17G>Anot provided [RCV005158742]likely benign7107779651107779651Humanname
597940742CV3819115single nucleotide variantNM_000111.3(SLC26A3):c.2063-10T>Gnot provided [RCV005158926]likely benign7107767918107767918Humanname
597963305CV3819584single nucleotide variantNM_000111.3(SLC26A3):c.1774-12C>Gnot provided [RCV005164300]likely benign7107774165107774165Humanname
597855188CV3821771single nucleotide variantNM_000111.3(SLC26A3):c.1408-14C>Tnot provided [RCV005174249]likely benign7107778295107778295Humanname
597841266CV3825486single nucleotide variantNM_000111.3(SLC26A3):c.1677+20A>Cnot provided [RCV005172169]likely benign7107776432107776432Humanname
597895473CV3833685single nucleotide variantNM_000111.3(SLC26A3):c.1119+15T>Cnot provided [RCV005180377]likely benign7107783190107783190Humanname
150423986CV1183910single nucleotide variantNM_000111.3(SLC26A3):c.2007+180C>Tnot provided [RCV001556055]likely benign7107773740107773740Humanname
150468192CV1218880single nucleotide variantNM_000111.3(SLC26A3):c.1678-147A>Gnot provided [RCV001614632]benign7107775019107775019Humanname
150448555CV1270478single nucleotide variantNM_000111.3(SLC26A3):c.2062+174A>Tnot provided [RCV001691616]benign7107771880107771880Humanname
150453488CV1276852single nucleotide variantNM_000111.3(SLC26A3):c.1312-146G>Anot provided [RCV001708642]benign7107779909107779909Humanname
150520728CV1290580single nucleotide variantNM_000111.3(SLC26A3):c.2007+183C>Tnot provided [RCV001732272]likely benign7107773737107773737Humanname
155268883CV1705709single nucleotide variantNM_000111.3(SLC26A3):c.1774-215T>Cnot provided [RCV002286317]likely benign7107774368107774368Humanname
150450956CV1276532microsatelliteNM_000111.3(SLC26A3):c.382+177ATTT[6]not provided [RCV001708321]benign7107791626107791629Humanname
405230095CV2904986microsatelliteNM_000111.3(SLC26A3):c.735+4_735+7delCongenital secretory diarrhea, chloride type [RCV004587531]|not provided [RCV003555366]pathogenic7107789517107789520Humanname
597686583CV3718760deletionNM_000111.3(SLC26A3):c.971+3_971+4delCongenital secretory diarrhea, chloride type [RCV005045912]likely pathogenic7107786823107786824Human1name
156444024CV1941303single nucleotide variantNM_000111.3(SLC26A3):c.12C>T (p.Pro4=)not provided [RCV003114940]likely benign7107794498107794498Humanname
155913408CV2011272single nucleotide variantNM_000111.3(SLC26A3):c.15T>C (p.Phe5=)not provided [RCV002681879]likely benign7107794495107794495Humanname
405248826CV2987201single nucleotide variantNM_000111.3(SLC26A3):c.27T>C (p.Tyr9=)not provided [RCV003686054]likely benign7107794483107794483Humanname
152100157CV1606677single nucleotide variantNM_000111.3(SLC26A3):c.93T>C (p.His31=)not provided [RCV002195444]likely benign7107794417107794417Humanname
402513950CV2860289single nucleotide variantNM_000111.3(SLC26A3):c.48T>C (p.Tyr16=)not provided [RCV003575332]likely benign7107794462107794462Humanname
151780885CV1363877single nucleotide variantNM_000111.3(SLC26A3):c.270A>G (p.Gln90=)not provided [RCV001864951]uncertain significance7107793743107793743Humanname
152027359CV1562784single nucleotide variantNM_000111.3(SLC26A3):c.261C>T (p.Ala87=)not provided [RCV002104866]likely benign7107793752107793752Humanname
152123982CV1562968single nucleotide variantNM_000111.3(SLC26A3):c.294C>T (p.Val98=)not provided [RCV002118202]likely benign7107791918107791918Humanname
152085127CV1617203single nucleotide variantNM_000111.3(SLC26A3):c.114T>C (p.His38=)not provided [RCV002076882]likely benign7107794396107794396Humanname
152093588CV1625927single nucleotide variantNM_000111.3(SLC26A3):c.165C>A (p.Leu55=)not provided [RCV002150903]likely benign7107793848107793848Humanname
155918725CV2031997single nucleotide variantNM_000111.3(SLC26A3):c.135T>C (p.Cys45=)not provided [RCV002727271]likely benign7107793878107793878Humanname
156121046CV2077999single nucleotide variantNM_000111.3(SLC26A3):c.249A>T (p.Thr83=)not provided [RCV002889563]likely benign7107793764107793764Humanname
156237909CV2119248single nucleotide variantNM_000111.3(SLC26A3):c.258G>T (p.Val86=)not provided [RCV002958762]likely benign7107793755107793755Humanname
156028743CV2156254duplicationNM_000111.3(SLC26A3):c.2063-10_2063-9dupnot provided [RCV003018580]benign7107767916107767917Humanname
402491875CV2866796single nucleotide variantNM_000111.3(SLC26A3):c.267A>G (p.Leu89=)not provided [RCV003573026]likely benign7107793746107793746Humanname
405092438CV2878195duplicationNM_000111.3(SLC26A3):c.67dup (p.Glu23fs)not provided [RCV003549996]pathogenic7107794442107794443Humanname
405213112CV2918276single nucleotide variantNM_000111.3(SLC26A3):c.279A>G (p.Ala93=)not provided [RCV003567415]likely benign7107791933107791933Humanname
405121095CV3003966single nucleotide variantNM_000111.3(SLC26A3):c.144A>G (p.Gln48=)not provided [RCV003723898]likely benign7107793869107793869Humanname
404998108CV3008754duplicationNM_000111.3(SLC26A3):c.1514+9_1514+10dupnot provided [RCV003692887]likely benign7107778164107778165Humanname
405162572CV3017912single nucleotide variantNM_000111.3(SLC26A3):c.198A>G (p.Ala66=)not provided [RCV003704069]likely benign7107793815107793815Humanname
405204413CV3033496single nucleotide variantNM_000111.3(SLC26A3):c.138C>T (p.Ser46=)not provided [RCV003707817]likely benign7107793875107793875Humanname
405030111CV3129952single nucleotide variantNM_000111.3(SLC26A3):c.219G>A (p.Leu73=)not provided [RCV003830551]likely benign7107793794107793794Humanname
405069825CV3140242deletionNM_000111.3(SLC26A3):c.2272-12_2272-9delnot provided [RCV003833397]likely benign7107765887107765890Humanname
405055234CV3151460single nucleotide variantNM_000111.3(SLC26A3):c.123G>A (p.Val41=)not provided [RCV003849869]likely benign7107794387107794387Humanname
405211758CV3173425single nucleotide variantNM_000111.3(SLC26A3):c.217T>C (p.Leu73=)not provided [RCV003862174]likely benign7107793796107793796Humanname
597877234CV3744234single nucleotide variantNM_000111.3(SLC26A3):c.202C>A (p.Arg68=)not provided [RCV005069448]uncertain significance7107793811107793811Humanname
597970333CV3750219single nucleotide variantNM_000111.3(SLC26A3):c.186T>C (p.Ser62=)not provided [RCV005084160]likely benign7107793827107793827Humanname
597923491CV3772436single nucleotide variantNM_000111.3(SLC26A3):c.183A>T (p.Ala61=)not provided [RCV005115586]likely benign7107793830107793830Humanname
597886000CV3800031single nucleotide variantNM_000111.3(SLC26A3):c.123G>C (p.Val41=)not provided [RCV005150510]likely benign7107794387107794387Humanname
597971568CV3833101single nucleotide variantNM_000111.3(SLC26A3):c.183A>C (p.Ala61=)not provided [RCV005166998]likely benign7107793830107793830Humanname
28906072CV897229single nucleotide variantNM_000111.3(SLC26A3):c.261C>A (p.Ala87=)Congenital secretory diarrhea, chloride type [RCV001158762]|not provided [RCV002070958]likely benign|uncertain significance7107793752107793752Human1name
126768011CV1007088single nucleotide variantNM_000111.3(SLC26A3):c.59C>T (p.Ala20Val)not provided [RCV001321113]uncertain significance7107794451107794451Humanname
150405964CV1176853duplicationNM_000111.3(SLC26A3):c.971+199_971+200dupnot provided [RCV001545099]likely benign7107786613107786614Humanname
150493856CV1226045duplicationNM_000111.3(SLC26A3):c.1408-96_1408-92dupnot provided [RCV001619263]benign7107778360107778361Humanname
150489225CV1237616duplicationNM_000111.3(SLC26A3):c.1408-96_1408-86dupnot provided [RCV001654465]benign7107778360107778361Humanname
150505810CV1242059deletionNM_000111.3(SLC26A3):c.570+248_570+251delnot provided [RCV001658410]benign7107790797107790800Humanname
150440156CV1247819duplicationNM_000111.3(SLC26A3):c.1408-96_1408-84dupnot provided [RCV001666186]benign7107778360107778361Humanname
150488345CV1265233duplicationNM_000111.3(SLC26A3):c.1408-96_1408-88dupnot provided [RCV001687269]benign7107778360107778361Humanname
150474883CV1278950duplicationNM_000111.3(SLC26A3):c.1408-96_1408-91dupnot provided [RCV001713761]benign7107778360107778361Humanname
151798464CV1356754single nucleotide variantNM_000111.3(SLC26A3):c.645T>A (p.Thr215=)not provided [RCV001990725]likely benign|uncertain significance7107789614107789614Humanname
151879278CV1383671single nucleotide variantNM_000111.3(SLC26A3):c.29T>C (p.Ile10Thr)Inborn genetic diseases [RCV004039765]|not provided [RCV001907459]uncertain significance7107794481107794481Human1name
152158505CV1542017single nucleotide variantNM_000111.3(SLC26A3):c.324A>T (p.Ala108=)not provided [RCV002103337]likely benign7107791888107791888Humanname
152050862CV1552784deletionNM_000111.3(SLC26A3):c.1677+17_1677+20delnot provided [RCV002145676]likely benign7107776432107776435Humanname
152125796CV1554131single nucleotide variantNM_000111.3(SLC26A3):c.705G>A (p.Pro235=)not provided [RCV002098802]likely benign7107789554107789554Humanname
152116269CV1554175single nucleotide variantNM_000111.3(SLC26A3):c.393G>A (p.Pro131=)not provided [RCV002117234]likely benign7107791225107791225Humanname
152150943CV1559580single nucleotide variantNM_000111.3(SLC26A3):c.324A>G (p.Ala108=)not provided [RCV002220807]likely benign7107791888107791888Humanname
152131743CV1584963single nucleotide variantNM_000111.3(SLC26A3):c.750A>T (p.Val250=)not provided [RCV002082955]likely benign7107787495107787495Humanname
152150951CV1605528single nucleotide variantNM_000111.3(SLC26A3):c.957G>T (p.Gly319=)not provided [RCV002102220]likely benign7107786841107786841Humanname
152033506CV1610379single nucleotide variantNM_000111.3(SLC26A3):c.531G>A (p.Ala177=)SLC26A3-related disorder [RCV003970943]|not provided [RCV002124945]benign|likely benign7107791087107791087Human1name , trait , alternate_id
152066811CV1636652deletionNM_000111.3(SLC26A3):c.2062+13_2062+16delnot provided [RCV002110902]likely benign7107772038107772041Humanname
152056543CV1636869single nucleotide variantNM_000111.3(SLC26A3):c.534G>A (p.Ala178=)not provided [RCV002208165]likely benign7107791084107791084Humanname
152067769CV1647234single nucleotide variantNM_000111.3(SLC26A3):c.387G>A (p.Pro129=)not provided [RCV002129200]likely benign7107791231107791231Humanname
156410767CV1882743single nucleotide variantNM_000111.3(SLC26A3):c.513C>T (p.Asp171=)not provided [RCV003072201]likely benign7107791105107791105Humanname
156152043CV1896025single nucleotide variantNM_000111.3(SLC26A3):c.537G>A (p.Ala179=)not provided [RCV003082584]likely benign7107791081107791081Humanname
156085962CV1898966single nucleotide variantNM_000111.3(SLC26A3):c.39G>T (p.Arg13Ser)not provided [RCV003080038]uncertain significance7107794471107794471Humanname
156301499CV1955595deletionNM_000111.3(SLC26A3):c.2272-14_2272-13delnot provided [RCV002578247]likely benign7107765891107765892Humanname
156213561CV1997262deletionNM_000111.3(SLC26A3):c.2062+19_2062+23delnot provided [RCV002666935]likely benign7107772031107772035Humanname
156034684CV2002585single nucleotide variantNM_000111.3(SLC26A3):c.77A>C (p.Lys26Thr)not provided [RCV002658805]uncertain significance7107794433107794433Humanname
156399218CV2013155single nucleotide variantNM_000111.3(SLC26A3):c.498T>C (p.Ser166=)not provided [RCV002725854]likely benign7107791120107791120Humanname
155917886CV2031940single nucleotide variantNM_000111.3(SLC26A3):c.702C>T (p.Val234=)not provided [RCV002727231]likely benign7107789557107789557Humanname
155946707CV2072691single nucleotide variantNM_000111.3(SLC26A3):c.891C>A (p.Thr297=)not provided [RCV002862111]uncertain significance7107786907107786907Humanname
156294714CV2073416single nucleotide variantNM_000111.3(SLC26A3):c.475T>C (p.Leu159=)not provided [RCV002833348]likely benign7107791143107791143Humanname
155919399CV2073625deletionNM_000111.3(SLC26A3):c.1407+13_1407+16delnot provided [RCV002838237]likely benign7107779652107779655Humanname
156226888CV2081146single nucleotide variantNM_000111.3(SLC26A3):c.612C>T (p.Tyr204=)not provided [RCV002853423]likely benign7107789647107789647Humanname
156095555CV2167337single nucleotide variantNM_000111.3(SLC26A3):c.519G>A (p.Arg173=)not provided [RCV003038377]likely benign7107791099107791099Humanname
156198345CV2169551single nucleotide variantNM_000111.3(SLC26A3):c.98A>G (p.Lys33Arg)not provided [RCV003041883]uncertain significance7107794412107794412Humanname
156121775CV2174969single nucleotide variantNM_000111.3(SLC26A3):c.948T>C (p.Ala316=)not provided [RCV003055495]likely benign7107786850107786850Humanname
156141565CV2191922single nucleotide variantNM_000111.3(SLC26A3):c.636C>T (p.Gly212=)not provided [RCV003056204]likely benign7107789623107789623Humanname
401908978CV2823101single nucleotide variantNM_000111.3(SLC26A3):c.447C>G (p.Val149=)not provided [RCV003423742]likely benign7107791171107791171Humanname
402513933CV2860288single nucleotide variantNM_000111.3(SLC26A3):c.76A>T (p.Lys26Ter)not provided [RCV003575331]pathogenic7107794434107794434Humanname
405202968CV2861612single nucleotide variantNM_000111.3(SLC26A3):c.591G>A (p.Arg197=)not provided [RCV003551582]likely benign7107789668107789668Humanname
405020360CV2866288single nucleotide variantNM_000111.3(SLC26A3):c.750A>G (p.Val250=)not provided [RCV003577520]likely benign7107787495107787495Humanname
405196061CV2868858single nucleotide variantNM_000111.3(SLC26A3):c.606G>A (p.Val202=)not provided [RCV003550843]likely benign7107789653107789653Humanname
405208030CV2870436single nucleotide variantNM_000111.3(SLC26A3):c.813T>C (p.Val271=)not provided [RCV003552195]likely benign7107787432107787432Humanname
405208811CV2870643single nucleotide variantNM_000111.3(SLC26A3):c.903A>C (p.Ala301=)not provided [RCV003552299]likely benign7107786895107786895Humanname
402518997CV2870944insertionNM_000111.3(SLC26A3):c.570+10_570+11insCCnot provided [RCV003547615]likely benign7107791037107791038Humanname
402495916CV2883654single nucleotide variantNM_000111.3(SLC26A3):c.397C>T (p.Leu133=)not provided [RCV003573391]likely benign7107791221107791221Humanname
402507267CV2884462single nucleotide variantNM_000111.3(SLC26A3):c.726A>G (p.Ser242=)not provided [RCV003546336]likely benign7107789533107789533Humanname
405120345CV2887931single nucleotide variantNM_000111.3(SLC26A3):c.597A>T (p.Gly199=)not provided [RCV003559024]likely benign7107789662107789662Humanname
405114629CV2896789deletionNM_000111.3(SLC26A3):c.240del (p.Ile81fs)not provided [RCV003558351]pathogenic7107793773107793773Humanname
405113466CV2900673single nucleotide variantNM_000111.3(SLC26A3):c.699A>G (p.Thr233=)not provided [RCV003558148]likely benign7107789560107789560Humanname
402465253CV2916646microsatelliteNM_000111.3(SLC26A3):c.1119+11_1119+14delnot provided [RCV003569195]likely benign7107783191107783194Humanname
402468707CV2930534single nucleotide variantNM_000111.3(SLC26A3):c.603A>G (p.Val201=)not provided [RCV003569885]likely benign7107789656107789656Humanname
402488206CV2941560single nucleotide variantNM_000111.3(SLC26A3):c.966T>C (p.Asn322=)not provided [RCV003660289]likely benign7107786832107786832Humanname
402489269CV2941708single nucleotide variantNM_000111.3(SLC26A3):c.936G>A (p.Arg312=)not provided [RCV003660388]likely benign7107786862107786862Humanname
405088244CV2943396single nucleotide variantNM_000111.3(SLC26A3):c.333C>T (p.Phe111=)not provided [RCV003665103]likely benign7107791879107791879Humanname
405078206CV2945266microsatelliteNM_000111.3(SLC26A3):c.1234-22_1234-20delnot provided [RCV003664347]likely benign7107782894107782896Humanname
405117898CV2949567single nucleotide variantNM_000111.3(SLC26A3):c.732C>T (p.Phe244=)not provided [RCV003667052]likely benign7107789527107789527Humanname
405119456CV2955895single nucleotide variantNM_000111.3(SLC26A3):c.606G>T (p.Val202=)not provided [RCV003671233]likely benign7107789653107789653Humanname
405130262CV2962205single nucleotide variantNM_000111.3(SLC26A3):c.528G>A (p.Val176=)not provided [RCV003668226]likely benign7107791090107791090Humanname
405226406CV2967088single nucleotide variantNM_000111.3(SLC26A3):c.327C>A (p.Ser109=)not provided [RCV003681493]likely benign7107791885107791885Humanname
405245778CV2969187single nucleotide variantNM_000111.3(SLC26A3):c.423T>C (p.Val141=)not provided [RCV003685155]likely benign7107791195107791195Humanname
405243770CV2971720single nucleotide variantNM_000111.3(SLC26A3):c.345C>A (p.Ile115=)not provided [RCV003684671]likely benign7107791867107791867Humanname
405236350CV2973421single nucleotide variantNM_000111.3(SLC26A3):c.546C>T (p.Val182=)not provided [RCV003683147]likely benign7107791072107791072Humanname
405234546CV2975569single nucleotide variantNM_000111.3(SLC26A3):c.549A>T (p.Thr183=)not provided [RCV003682722]likely benign7107791069107791069Humanname
405212074CV2984009single nucleotide variantNM_000111.3(SLC26A3):c.321T>C (p.Tyr107=)not provided [RCV003708842]likely benign7107791891107791891Humanname
402489350CV2984466single nucleotide variantNM_000111.3(SLC26A3):c.546C>A (p.Val182=)not provided [RCV003713623]likely benign7107791072107791072Humanname
405194453CV2985982single nucleotide variantNM_000111.3(SLC26A3):c.792A>T (p.Thr264=)not provided [RCV003706767]likely benign7107787453107787453Humanname
405230110CV2987331single nucleotide variantNM_000111.3(SLC26A3):c.312T>C (p.Tyr104=)not provided [RCV003711370]likely benign7107791900107791900Humanname
405202388CV2989170single nucleotide variantNM_000111.3(SLC26A3):c.993T>G (p.Pro331=)not provided [RCV003678312]likely benign7107783331107783331Humanname
405205574CV2990727single nucleotide variantNM_000111.3(SLC26A3):c.417A>G (p.Leu139=)not provided [RCV003678618]likely benign7107791201107791201Humanname
402480168CV2991067single nucleotide variantNM_000111.3(SLC26A3):c.477G>A (p.Leu159=)not provided [RCV003686517]likely benign7107791141107791141Humanname
405248530CV3003697single nucleotide variantNM_000111.3(SLC26A3):c.303C>T (p.Pro101=)not provided [RCV003721139]likely benign7107791909107791909Humanname
405000733CV3005321single nucleotide variantNM_000111.3(SLC26A3):c.744C>T (p.Tyr248=)not provided [RCV003693091]likely benign7107787501107787501Humanname
402521570CV3011215single nucleotide variantNM_000111.3(SLC26A3):c.414A>G (p.Gly138=)not provided [RCV003716471]likely benign7107791204107791204Humanname
11661846CV301451single nucleotide variantNM_000111.3(SLC26A3):c.738A>G (p.Val246=)Congenital secretory diarrhea, chloride type [RCV000380704]uncertain significance7107787507107787507Human1name
405005600CV3016567deletionNM_000111.3(SLC26A3):c.1515-23_1515-20delnot provided [RCV003693490]likely benign7107776726107776729Humanname
405057047CV3019578single nucleotide variantNM_000111.3(SLC26A3):c.702C>G (p.Val234=)not provided [RCV003697414]likely benign7107789557107789557Humanname
405065154CV3020729single nucleotide variantNM_000111.3(SLC26A3):c.549A>G (p.Thr183=)not provided [RCV003697906]likely benign7107791069107791069Humanname
405084366CV3028168single nucleotide variantNM_000111.3(SLC26A3):c.315G>A (p.Gly105=)not provided [RCV003699271]likely benign7107791897107791897Humanname
405208269CV3037153single nucleotide variantNM_000111.3(SLC26A3):c.387G>C (p.Pro129=)not provided [RCV003708293]likely benign7107791231107791231Humanname
402499509CV3038369single nucleotide variantNM_000111.3(SLC26A3):c.660T>C (p.His220=)not provided [RCV003714591]likely benign7107789599107789599Humanname
402514301CV3039769single nucleotide variantNM_000111.3(SLC26A3):c.981C>G (p.Pro327=)not provided [RCV003715819]likely benign7107783343107783343Humanname
11606005CV304699single nucleotide variantNM_000111.3(SLC26A3):c.741A>G (p.Leu247=)Congenital secretory diarrhea, chloride type [RCV000326115]|not provided [RCV002058645]benign|uncertain significance7107787504107787504Human1name
405201138CV3066885single nucleotide variantNM_000111.3(SLC26A3):c.489G>A (p.Ser163=)not provided [RCV003730783]likely benign7107791129107791129Humanname
11600600CV309335single nucleotide variantNM_000111.3(SLC26A3):c.996C>T (p.Asp332=)Congenital secretory diarrhea, chloride type [RCV000274999]|not provided [RCV000963219]benign|likely benign7107783328107783328Human1name
11609255CV309345single nucleotide variantNM_000111.3(SLC26A3):c.891C>T (p.Thr297=)Congenital secretory diarrhea, chloride type [RCV000366052]|not provided [RCV002524519]likely benign|uncertain significance7107786907107786907Human1name
405107522CV3136251single nucleotide variantNM_000111.3(SLC26A3):c.555T>G (p.Leu185=)SLC26A3-related disorder [RCV003939221]|not provided [RCV003835597]likely benign7107791063107791063Human1name , trait , alternate_id
405137072CV3144681deletionNM_000111.3(SLC26A3):c.2063-18_2063-17delnot provided [RCV003855198]likely benign7107767925107767926Humanname
405067524CV3148964deletionNM_000111.3(SLC26A3):c.1515-18_1515-16delnot provided [RCV003850726]likely benign7107776722107776724Humanname
405209306CV3162590single nucleotide variantNM_000111.3(SLC26A3):c.666G>A (p.Leu222=)not provided [RCV003861889]likely benign7107789593107789593Humanname
405090523CV3167866single nucleotide variantNM_000111.3(SLC26A3):c.897T>C (p.Ile299=)not provided [RCV003852256]likely benign7107786901107786901Humanname
407509465CV3474073single nucleotide variantNM_000111.3(SLC26A3):c.76A>G (p.Lys26Glu)Inborn genetic diseases [RCV004672384]uncertain significance7107794434107794434Human1name
597701286CV3718764single nucleotide variantNM_000111.3(SLC26A3):c.48T>G (p.Tyr16Ter)Congenital secretory diarrhea, chloride type [RCV005033535]likely pathogenic7107794462107794462Human1name
597839455CV3737024single nucleotide variantNM_000111.3(SLC26A3):c.387G>T (p.Pro129=)not provided [RCV005064504]likely benign7107791231107791231Humanname
597893694CV3763526single nucleotide variantNM_000111.3(SLC26A3):c.672C>T (p.Ser224=)not provided [RCV005111107]likely benign7107789587107789587Humanname
597919760CV3765029single nucleotide variantNM_000111.3(SLC26A3):c.633T>C (p.Ser211=)not provided [RCV005115044]likely benign7107789626107789626Humanname
597956379CV3792391single nucleotide variantNM_000111.3(SLC26A3):c.615G>C (p.Leu205=)not provided [RCV005137278]likely benign7107789644107789644Humanname
597957954CV3814505single nucleotide variantNM_000111.3(SLC26A3):c.798G>A (p.Leu266=)not provided [RCV005162836]likely benign7107787447107787447Humanname
597951345CV3815343single nucleotide variantNM_000111.3(SLC26A3):c.978G>A (p.Gln326=)not provided [RCV005161293]likely benign7107783346107783346Humanname
597852955CV3825084single nucleotide variantNM_000111.3(SLC26A3):c.864G>T (p.Val288=)not provided [RCV005173932]likely benign7107787381107787381Humanname
598169342CV3918319single nucleotide variantNM_000111.3(SLC26A3):c.83C>G (p.Thr28Arg)Inborn genetic diseases [RCV005284253]likely benign7107794427107794427Human1name
15185255CV699735single nucleotide variantNM_000111.3(SLC26A3):c.378C>T (p.Ser126=)Congenital secretory diarrhea, chloride type [RCV001158758]|not provided [RCV000952926]benign|likely benign7107791834107791834Human1name
15197638CV699736single nucleotide variantNM_000111.3(SLC26A3):c.357C>T (p.Phe119=)Congenital secretory diarrhea, chloride type [RCV001158759]|not provided [RCV000956521]benign7107791855107791855Human1name
8616724CV70625duplicationNM_000111.3(SLC26A3):c.177dup (p.Ile60fs)Congenital secretory diarrhea, chloride type [RCV000049395]|not provided [RCV003556123]pathogenic|likely pathogenic7107793835107793836Human1name
15162101CV750331single nucleotide variantNM_000111.3(SLC26A3):c.498T>G (p.Ser166=)not provided [RCV000925822]likely benign7107791120107791120Humanname
28870029CV897223single nucleotide variantNM_000111.3(SLC26A3):c.915C>T (p.Tyr305=)Congenital secretory diarrhea, chloride type [RCV001163360]|SLC26A3-related disorder [RCV003898159]|not provided [RCV002559564]likely benign|uncertain significance7107786883107786883Human1name , trait , alternate_id
28908460CV897230single nucleotide variantNM_000111.3(SLC26A3):c.58G>A (p.Ala20Thr)Congenital secretory diarrhea, chloride type [RCV001160114]uncertain significance7107794452107794452Human1name
127241110CV1060961deletionNM_000111.3(SLC26A3):c.614del (p.Leu205fs)Congenital secretory diarrhea, chloride type [RCV004563871]|SLC26A3-related disorder [RCV003405630]|not provided [RCV001383592]pathogenic7107789645107789645Human1name , trait , alternate_id
151792471CV1351100single nucleotide variantNM_000111.3(SLC26A3):c.167C>T (p.Ser56Phe)not provided [RCV001990207]uncertain significance7107793846107793846Humanname
151792389CV1399337single nucleotide variantNM_000111.3(SLC26A3):c.179T>G (p.Ile60Arg)not provided [RCV001898299]uncertain significance7107793834107793834Humanname
151772191CV1416922single nucleotide variantNM_000111.3(SLC26A3):c.170T>C (p.Leu57Ser)not provided [RCV001971291]uncertain significance7107793843107793843Humanname
151873745CV1429930single nucleotide variantNM_000111.3(SLC26A3):c.137C>A (p.Ser46Tyr)Inborn genetic diseases [RCV002579514]|not provided [RCV001998677]uncertain significance7107793876107793876Human1name
151771467CV1451701single nucleotide variantNM_000111.3(SLC26A3):c.157A>T (p.Ile53Phe)not provided [RCV001988278]uncertain significance7107793856107793856Humanname
151849503CV1451938single nucleotide variantNM_000111.3(SLC26A3):c.147G>T (p.Lys49Asn)Inborn genetic diseases [RCV002548128]|not provided [RCV002016382]uncertain significance7107793866107793866Human1name
151718504CV1458706single nucleotide variantNM_000111.3(SLC26A3):c.128G>A (p.Cys43Tyr)not provided [RCV002003298]uncertain significance7107794382107794382Humanname
151725178CV1462057single nucleotide variantNM_000111.3(SLC26A3):c.164T>G (p.Leu55Arg)not provided [RCV001966497]uncertain significance7107793849107793849Humanname
151812197CV1497960single nucleotide variantNM_000111.3(SLC26A3):c.2193T>C (p.Phe731=)not provided [RCV001953936]likely benign7107767778107767778Humanname
151721320CV1504689single nucleotide variantNM_000111.3(SLC26A3):c.193C>G (p.Pro65Ala)not provided [RCV001983121]uncertain significance7107793820107793820Humanname
152082709CV1526236single nucleotide variantNM_000111.3(SLC26A3):c.1696C>A (p.Arg566=)not provided [RCV002170749]likely benign7107774854107774854Humanname
152175698CV1527087single nucleotide variantNM_000111.3(SLC26A3):c.1452C>T (p.Leu484=)not provided [RCV002163834]likely benign7107778237107778237Humanname
152110185CV1530184single nucleotide variantNM_000111.3(SLC26A3):c.2004A>G (p.Lys668=)not provided [RCV002196665]likely benign7107773923107773923Humanname
152167068CV1534831single nucleotide variantNM_000111.3(SLC26A3):c.1068A>T (p.Ser356=)not provided [RCV002160778]likely benign7107783256107783256Humanname
152168212CV1547916single nucleotide variantNM_000111.3(SLC26A3):c.1167A>G (p.Arg389=)not provided [RCV002161056]likely benign7107783046107783046Humanname
152062842CV1563383single nucleotide variantNM_000111.3(SLC26A3):c.1320G>C (p.Leu440=)not provided [RCV002190739]likely benign7107779755107779755Humanname
152030156CV1566037single nucleotide variantNM_000111.3(SLC26A3):c.2184T>G (p.Thr728=)not provided [RCV002086049]likely benign7107767787107767787Humanname
152057648CV1567355single nucleotide variantNM_000111.3(SLC26A3):c.1333T>C (p.Leu445=)not provided [RCV002146421]likely benign7107779742107779742Humanname
152113378CV1573470single nucleotide variantNM_000111.3(SLC26A3):c.1878T>G (p.Pro626=)not provided [RCV002215799]likely benign7107774049107774049Humanname
152125252CV1580701single nucleotide variantNM_000111.3(SLC26A3):c.1623A>G (p.Pro541=)SLC26A3-related disorder [RCV003970999]|not provided [RCV002082121]likely benign7107776506107776506Human1name , trait , alternate_id
152127828CV1583675single nucleotide variantNM_000111.3(SLC26A3):c.2049C>T (p.Ile683=)not provided [RCV002198920]likely benign7107772067107772067Humanname
152073833CV1599112single nucleotide variantNM_000111.3(SLC26A3):c.1671C>T (p.Ile557=)not provided [RCV002148442]likely benign7107776458107776458Humanname
152106187CV1605115single nucleotide variantNM_000111.3(SLC26A3):c.1815C>T (p.Asp605=)not provided [RCV002196179]likely benign7107774112107774112Humanname
152149484CV1616820single nucleotide variantNM_000111.3(SLC26A3):c.1857A>G (p.Pro619=)not provided [RCV002201746]likely benign7107774070107774070Humanname
152084586CV1617084single nucleotide variantNM_000111.3(SLC26A3):c.1905T>C (p.Leu635=)SLC26A3-related disorder [RCV003913515]|not provided [RCV002076816]likely benign7107774022107774022Human1name , trait , alternate_id
152093539CV1625919single nucleotide variantNM_000111.3(SLC26A3):c.1531C>T (p.Leu511=)not provided [RCV002150898]likely benign7107776690107776690Humanname
152025767CV1627544single nucleotide variantNM_000111.3(SLC26A3):c.1530G>A (p.Thr510=)not provided [RCV002104323]likely benign7107776691107776691Humanname
152098442CV1639891single nucleotide variantNM_000111.3(SLC26A3):c.1572A>G (p.Lys524=)not provided [RCV002078665]likely benign7107776649107776649Humanname
152112657CV1640635single nucleotide variantNM_000111.3(SLC26A3):c.1017C>T (p.Thr339=)not provided [RCV002174529]likely benign7107783307107783307Humanname
152039990CV1644508single nucleotide variantNM_000111.3(SLC26A3):c.1896T>C (p.Asn632=)not provided [RCV002165543]likely benign7107774031107774031Humanname
152116121CV1653719single nucleotide variantNM_000111.3(SLC26A3):c.1320G>A (p.Leu440=)not provided [RCV002153675]likely benign7107779755107779755Humanname
155715710CV1774134single nucleotide variantNM_000111.3(SLC26A3):c.196G>T (p.Ala66Ser)not provided [RCV002296411]uncertain significance7107793817107793817Humanname
156140575CV1898502single nucleotide variantNM_000111.3(SLC26A3):c.1257C>T (p.Ile419=)not provided [RCV003082185]likely benign7107782851107782851Humanname
156046007CV1927105single nucleotide variantNM_000111.3(SLC26A3):c.1272C>T (p.Val424=)not provided [RCV002637760]likely benign7107782836107782836Humanname
156447215CV1944858single nucleotide variantNM_000111.3(SLC26A3):c.1683C>G (p.Gly561=)SLC26A3-related disorder [RCV003928947]|not provided [RCV003118742]likely benign7107774867107774867Human1name , trait , alternate_id
156348464CV1970694single nucleotide variantNM_000111.3(SLC26A3):c.1131C>T (p.Ala377=)not provided [RCV002601650]likely benign7107783082107783082Humanname
156290271CV2001787single nucleotide variantNM_000111.3(SLC26A3):c.277G>A (p.Ala93Thr)Inborn genetic diseases [RCV004966024]|not provided [RCV002670738]uncertain significance7107791935107791935Human1name
156303180CV2003533single nucleotide variantNM_000111.3(SLC26A3):c.1741C>T (p.Leu581=)not provided [RCV002671255]likely benign7107774809107774809Humanname
156370316CV2007678single nucleotide variantNM_000111.3(SLC26A3):c.1824G>C (p.Leu608=)not provided [RCV002676848]likely benign7107774103107774103Humanname
156260788CV2033961single nucleotide variantNM_000111.3(SLC26A3):c.296A>C (p.Asp99Ala)not provided [RCV002746301]uncertain significance7107791916107791916Humanname
156011500CV2039256single nucleotide variantNM_000111.3(SLC26A3):c.2043G>C (p.Val681=)not provided [RCV002756709]likely benign7107772073107772073Humanname
156088632CV2056848single nucleotide variantNM_000111.3(SLC26A3):c.1281C>T (p.Ala427=)not provided [RCV002824101]likely benign7107782827107782827Humanname
156233334CV2075116single nucleotide variantNM_000111.3(SLC26A3):c.1755C>T (p.Gly585=)not provided [RCV002830134]uncertain significance7107774795107774795Humanname
156036986CV2143256single nucleotide variantNM_000111.3(SLC26A3):c.1846C>T (p.Leu616=)not provided [RCV002999371]benign7107774081107774081Humanname
156214952CV2176548single nucleotide variantNM_000111.3(SLC26A3):c.1440T>A (p.Ile480=)not provided [RCV003024960]likely benign7107778249107778249Humanname
156097321CV2183646single nucleotide variantNM_000111.3(SLC26A3):c.1444C>T (p.Leu482=)not provided [RCV003054590]likely benign7107778245107778245Humanname
156042834CV2188067single nucleotide variantNM_000111.3(SLC26A3):c.1986T>G (p.Ser662=)not provided [RCV003036636]likely benign7107773941107773941Humanname
156301158CV2189473single nucleotide variantNM_000111.3(SLC26A3):c.120A>T (p.Lys40Asn)not provided [RCV003061969]uncertain significance7107794390107794390Humanname
156236366CV2224117single nucleotide variantNM_000111.3(SLC26A3):c.152A>G (p.Lys51Arg)Inborn genetic diseases [RCV002713092]uncertain significance7107793861107793861Human1name
405201410CV2861310single nucleotide variantNM_000111.3(SLC26A3):c.254T>C (p.Ile85Thr)not provided [RCV003551422]uncertain significance7107793759107793759Humanname
405203160CV2861365single nucleotide variantNM_000111.3(SLC26A3):c.1155T>C (p.Cys385=)not provided [RCV003551454]likely benign7107783058107783058Humanname
405196217CV2868897single nucleotide variantNM_000111.3(SLC26A3):c.2076G>A (p.Glu692=)not provided [RCV003550859]likely benign7107767895107767895Humanname
405077770CV2869690single nucleotide variantNM_000111.3(SLC26A3):c.1737A>C (p.Arg579=)not provided [RCV003548928]likely benign7107774813107774813Humanname
405198703CV2876820single nucleotide variantNM_000111.3(SLC26A3):c.1542T>C (p.Ile514=)not provided [RCV003551163]likely benign7107776679107776679Humanname
405211798CV2878487single nucleotide variantNM_000111.3(SLC26A3):c.1113C>T (p.Gly371=)not provided [RCV003552706]likely benign7107783211107783211Humanname
405129342CV2893294single nucleotide variantNM_000111.3(SLC26A3):c.1038C>T (p.Ile346=)not provided [RCV003559790]likely benign7107783286107783286Humanname
405154519CV2894108single nucleotide variantNM_000111.3(SLC26A3):c.118A>T (p.Lys40Ter)not provided [RCV003561902]pathogenic7107794392107794392Humanname
405199229CV2901222deletionNM_000111.3(SLC26A3):c.594del (p.Ile198fs)not provided [RCV003565776]pathogenic7107789665107789665Humanname
405137332CV2907007single nucleotide variantNM_000111.3(SLC26A3):c.1140G>A (p.Leu380=)not provided [RCV003560485]likely benign7107783073107783073Humanname
405008206CV2926867single nucleotide variantNM_000111.3(SLC26A3):c.1287A>T (p.Gly429=)not provided [RCV003576511]likely benign7107782821107782821Humanname
405063170CV2927186single nucleotide variantNM_000111.3(SLC26A3):c.1983T>C (p.Val661=)not provided [RCV003580624]likely benign7107773944107773944Humanname
405010511CV2933577single nucleotide variantNM_000111.3(SLC26A3):c.2184T>A (p.Thr728=)not provided [RCV003576693]likely benign7107767787107767787Humanname
402483006CV2937541single nucleotide variantNM_000111.3(SLC26A3):c.1032C>T (p.Phe344=)not provided [RCV003659816]likely benign7107783292107783292Humanname
402503662CV2937808single nucleotide variantNM_000111.3(SLC26A3):c.2175T>C (p.Asp725=)not provided [RCV003661839]likely benign7107767796107767796Humanname
405063925CV2939833single nucleotide variantNM_000111.3(SLC26A3):c.2112G>T (p.Val704=)not provided [RCV003658985]likely benign7107767859107767859Humanname
402523903CV2940418single nucleotide variantNM_000111.3(SLC26A3):c.1260C>T (p.Ile420=)not provided [RCV003663510]likely benign7107782848107782848Humanname
402487570CV2941455deletionNM_000111.3(SLC26A3):c.23_24del (p.Gln8fs)not provided [RCV003660228]pathogenic7107794486107794487Humanname
405077032CV2948605single nucleotide variantNM_000111.3(SLC26A3):c.1551C>G (p.Thr517=)not provided [RCV003664262]likely benign7107776670107776670Humanname
405118418CV2949778single nucleotide variantNM_000111.3(SLC26A3):c.2019A>G (p.Glu673=)not provided [RCV003667175]likely benign7107772097107772097Humanname
405136513CV2958178single nucleotide variantNM_000111.3(SLC26A3):c.2289A>G (p.Lys763=)not provided [RCV003672861]likely benign7107765861107765861Humanname
405147277CV2960067single nucleotide variantNM_000111.3(SLC26A3):c.1489C>T (p.Leu497=)not provided [RCV003669790]likely benign7107778200107778200Humanname
405140839CV2962013single nucleotide variantNM_000111.3(SLC26A3):c.2145T>C (p.Asp715=)not provided [RCV003673208]likely benign7107767826107767826Humanname
405245554CV2969256single nucleotide variantNM_000111.3(SLC26A3):c.1326T>C (p.Ala442=)not provided [RCV003685200]likely benign7107779749107779749Humanname
405241222CV2970699single nucleotide variantNM_000111.3(SLC26A3):c.1113C>A (p.Gly371=)not provided [RCV003684084]likely benign7107783211107783211Humanname
405187824CV2977678single nucleotide variantNM_000111.3(SLC26A3):c.1275T>G (p.Val425=)not provided [RCV003706161]likely benign7107782833107782833Humanname
405239553CV2979846single nucleotide variantNM_000111.3(SLC26A3):c.2034G>A (p.Lys678=)not provided [RCV003683750]likely benign7107772082107772082Humanname
402496429CV2988697single nucleotide variantNM_000111.3(SLC26A3):c.2043G>A (p.Val681=)not provided [RCV003714304]likely benign7107772073107772073Humanname
404989593CV2998703single nucleotide variantNM_000111.3(SLC26A3):c.1914C>T (p.Asn638=)not provided [RCV003692159]likely benign7107774013107774013Humanname
402516102CV3003124single nucleotide variantNM_000111.3(SLC26A3):c.2274G>T (p.Val758=)not provided [RCV003716079]likely benign7107765876107765876Humanname
405241793CV3004708single nucleotide variantNM_000111.3(SLC26A3):c.1260C>A (p.Ile420=)not provided [RCV003719250]likely benign7107782848107782848Humanname
405129809CV3010823single nucleotide variantNM_000111.3(SLC26A3):c.1902T>C (p.Asp634=)not provided [RCV003701572]likely benign7107774025107774025Humanname
405039284CV3013579single nucleotide variantNM_000111.3(SLC26A3):c.1566T>C (p.Asn522=)not provided [RCV003696196]likely benign7107776655107776655Humanname
402524602CV3015123single nucleotide variantNM_000111.3(SLC26A3):c.1923C>T (p.Val641=)not provided [RCV003690548]likely benign7107774004107774004Humanname
402497431CV3015728single nucleotide variantNM_000111.3(SLC26A3):c.1074C>T (p.Ala358=)not provided [RCV003688149]likely benign7107783250107783250Humanname
402499213CV3016096single nucleotide variantNM_000111.3(SLC26A3):c.1800C>T (p.Thr600=)not provided [RCV003688318]likely benign7107774127107774127Humanname
405126026CV3017296single nucleotide variantNM_000111.3(SLC26A3):c.1767G>A (p.Val589=)not provided [RCV003701244]likely benign7107774783107774783Humanname
405116728CV3020222single nucleotide variantNM_000111.3(SLC26A3):c.1569A>G (p.Lys523=)not provided [RCV003700319]likely benign7107776652107776652Humanname
405090952CV3021797single nucleotide variantNM_000111.3(SLC26A3):c.1176T>A (p.Ala392=)not provided [RCV003699730]likely benign7107783037107783037Humanname
405147779CV3024160single nucleotide variantNM_000111.3(SLC26A3):c.1170A>T (p.Gly390=)not provided [RCV003703063]likely benign7107783043107783043Humanname
405140792CV3026230duplicationNM_000111.3(SLC26A3):c.332dup (p.Ala113fs)not provided [RCV003702487]pathogenic7107791879107791880Humanname
405119189CV3030633single nucleotide variantNM_000111.3(SLC26A3):c.1110T>C (p.Asp370=)not provided [RCV003700571]likely benign7107783214107783214Humanname
405066722CV3030853single nucleotide variantNM_000111.3(SLC26A3):c.1332A>G (p.Ala444=)not provided [RCV003698071]likely benign7107779743107779743Humanname
405246178CV3047977single nucleotide variantNM_000111.3(SLC26A3):c.1276C>T (p.Leu426=)not provided [RCV003720483]likely benign7107782832107782832Humanname
405245717CV3051662single nucleotide variantNM_000111.3(SLC26A3):c.1581T>C (p.Tyr527=)not provided [RCV003720379]likely benign7107776640107776640Humanname
405142840CV3056048single nucleotide variantNM_000111.3(SLC26A3):c.1911C>T (p.Leu637=)not provided [RCV003725803]likely benign7107774016107774016Humanname
405207064CV3064460deletionNM_000111.3(SLC26A3):c.958del (p.Asp320fs)not provided [RCV003731446]pathogenic7107786840107786840Humanname
405035439CV3072606single nucleotide variantNM_000111.3(SLC26A3):c.1812T>C (p.Ser604=)not provided [RCV003739478]likely benign7107774115107774115Humanname
405230866CV3073319single nucleotide variantNM_000111.3(SLC26A3):c.1026T>C (p.Asp342=)not provided [RCV003734834]likely benign7107783298107783298Humanname
11611175CV309313single nucleotide variantNM_000111.3(SLC26A3):c.1953T>C (p.Leu651=)Congenital secretory diarrhea, chloride type [RCV000391222]|not provided [RCV001522407]|not specified [RCV001528634]benign7107773974107773974Human1name
11605008CV309333single nucleotide variantNM_000111.3(SLC26A3):c.1299G>A (p.Ala433=)Congenital secretory diarrhea, chloride type [RCV000314738]|not provided [RCV001519919]benign7107782809107782809Human1name
11608222CV309357single nucleotide variantNM_000111.3(SLC26A3):c.203G>A (p.Arg68Gln)Congenital secretory diarrhea, chloride type [RCV000352537]|SLC26A3-related disorder [RCV003912533]|not provided [RCV000947057]benign|likely benign7107793810107793810Human1name , trait , alternate_id
11601003CV309486single nucleotide variantNM_000111.3(SLC26A3):c.241A>G (p.Ile81Val)Congenital secretory diarrhea, chloride type [RCV000278855]|not provided [RCV000958956]benign|likely benign7107793772107793772Human1name
405119555CV3116170single nucleotide variantNM_000111.3(SLC26A3):c.1200A>T (p.Ser400=)not provided [RCV003814660]likely benign7107783013107783013Humanname
405004538CV3120771single nucleotide variantNM_000111.3(SLC26A3):c.1401T>C (p.Tyr467=)not provided [RCV003828374]likely benign7107779674107779674Humanname
405172122CV3122808single nucleotide variantNM_000111.3(SLC26A3):c.1935C>T (p.Ser645=)not provided [RCV003819206]likely benign7107773992107773992Humanname
405195106CV3128650single nucleotide variantNM_000111.3(SLC26A3):c.1593G>A (p.Glu531=)not provided [RCV003821388]likely benign7107776536107776536Humanname
405197788CV3132088single nucleotide variantNM_000111.3(SLC26A3):c.2100T>C (p.Phe700=)not provided [RCV003821681]likely benign7107767871107767871Humanname
405215206CV3143225single nucleotide variantNM_000111.3(SLC26A3):c.1194C>A (p.Ser398=)not provided [RCV003846388]likely benign7107783019107783019Humanname
405211543CV3146363single nucleotide variantNM_000111.3(SLC26A3):c.1653C>T (p.Phe551=)not provided [RCV003845894]likely benign7107776476107776476Humanname
405054394CV3151402single nucleotide variantNM_000111.3(SLC26A3):c.1077C>T (p.Ser359=)not provided [RCV003849811]likely benign7107783247107783247Humanname
405166495CV3160588single nucleotide variantNM_000111.3(SLC26A3):c.1947C>T (p.Leu649=)not provided [RCV003857468]likely benign7107773980107773980Humanname
405209655CV3162622single nucleotide variantNM_000111.3(SLC26A3):c.1500G>A (p.Val500=)not provided [RCV003861921]likely benign7107778189107778189Humanname
405238909CV3165795single nucleotide variantNM_000111.3(SLC26A3):c.2229T>C (p.Phe743=)not provided [RCV003866807]likely benign7107767621107767621Humanname
405236565CV3166504deletionNM_000111.3(SLC26A3):c.-3_13del (p.Met1fs)Congenital secretory diarrhea, chloride type [RCV005038583]|not provided [RCV003853953]pathogenic|likely pathogenic7107794497107794512Human1name
405238299CV3167059single nucleotide variantNM_000111.3(SLC26A3):c.1419C>T (p.Ile473=)not provided [RCV003854314]likely benign7107778270107778270Humanname
405234465CV3168430single nucleotide variantNM_000111.3(SLC26A3):c.1797C>T (p.Asp599=)not provided [RCV003865904]likely benign7107774130107774130Humanname
402466309CV3173580single nucleotide variantNM_000111.3(SLC26A3):c.1770A>C (p.Thr590=)not provided [RCV003873054]likely benign7107774780107774780Humanname
405241033CV3176859single nucleotide variantNM_000111.3(SLC26A3):c.1668T>C (p.Leu556=)not provided [RCV003867297]likely benign7107776461107776461Humanname
402512348CV3178454single nucleotide variantNM_000111.3(SLC26A3):c.1095C>T (p.Tyr365=)not provided [RCV003879071]likely benign7107783229107783229Humanname
8565818CV31796deletionNM_000111.3(SLC26A3):c.735+708_971+1514delCongenital secretory diarrhea, chloride type [RCV000018242]pathogenic7107785313107788816Human1name
405869519CV3396777deletionNM_000111.3(SLC26A3):c.670del (p.Ser224fs)Congenital secretory diarrhea, chloride type [RCV004566658]likely pathogenic7107789589107789589Human1name
405867997CV3401383single nucleotide variantNM_000111.3(SLC26A3):c.202C>T (p.Arg68Trp)Congenital secretory diarrhea, chloride type [RCV004577692]uncertain significance7107793811107793811Human1name
596945878CV3550274deletionNM_000111.3(SLC26A3):c.575del (p.Ala192fs)Congenital secretory diarrhea, chloride type [RCV004818812]likely pathogenic7107789684107789684Human1name
597639724CV3606498single nucleotide variantNM_000111.3(SLC26A3):c.151A>G (p.Lys51Glu)Inborn genetic diseases [RCV004971295]uncertain significance7107793862107793862Human1name
597701278CV3718763duplicationNM_000111.3(SLC26A3):c.526dup (p.Val176fs)Congenital secretory diarrhea, chloride type [RCV005033534]likely pathogenic7107791091107791092Human1name
597845107CV3736241single nucleotide variantNM_000111.3(SLC26A3):c.142C>G (p.Gln48Glu)not provided [RCV005065589]uncertain significance7107793871107793871Humanname
597834526CV3739514single nucleotide variantNM_000111.3(SLC26A3):c.1761A>G (p.Leu587=)not provided [RCV005063733]likely benign7107774789107774789Humanname
597928483CV3749142single nucleotide variantNM_000111.3(SLC26A3):c.1920G>A (p.Glu640=)not provided [RCV005075598]likely benign7107774007107774007Humanname
597939656CV3756837single nucleotide variantNM_000111.3(SLC26A3):c.1080C>G (p.Val360=)not provided [RCV005077218]likely benign7107783244107783244Humanname
597870095CV3768117single nucleotide variantNM_000111.3(SLC26A3):c.1899T>C (p.Asp633=)not provided [RCV005122496]likely benign7107774028107774028Humanname
597939741CV3775387single nucleotide variantNM_000111.3(SLC26A3):c.2118C>T (p.Ser706=)not provided [RCV005118213]likely benign7107767853107767853Humanname
597880238CV3783596single nucleotide variantNM_000111.3(SLC26A3):c.1521A>G (p.Lys507=)not provided [RCV005124092]likely benign7107776700107776700Humanname
597928671CV3788849single nucleotide variantNM_000111.3(SLC26A3):c.1440T>C (p.Ile480=)not provided [RCV005131328]likely benign7107778249107778249Humanname
597955875CV3796341single nucleotide variantNM_000111.3(SLC26A3):c.1716C>T (p.Asn572=)not provided [RCV005137159]likely benign7107774834107774834Humanname
597852744CV3805720single nucleotide variantNM_000111.3(SLC26A3):c.2115A>G (p.Lys705=)not provided [RCV005145650]likely benign7107767856107767856Humanname
597842687CV3831067single nucleotide variantNM_000111.3(SLC26A3):c.1872C>T (p.Asp624=)not provided [RCV005172448]likely benign7107774055107774055Humanname
597889343CV3856079single nucleotide variantNM_000111.3(SLC26A3):c.1296G>A (p.Leu432=)not provided [RCV005200324]likely benign7107782812107782812Humanname
8616733CV70634deletionNM_000111.3(SLC26A3):c.332del (p.Phe111fs)Congenital secretory diarrhea, chloride type [RCV000049404]likely pathogenic7107791880107791880Human1name
8616734CV70635deletionNM_000111.3(SLC26A3):c.344del (p.Ile115fs)Congenital secretory diarrhea, chloride type [RCV000049405]|not provided [RCV002513682]pathogenic|likely pathogenic7107791868107791868Human1name
8616739CV70640deletionNM_000111.3(SLC26A3):c.392del (p.Pro131fs)Congenital secretory diarrhea, chloride type [RCV000049410]likely pathogenic7107791226107791226Human1name
15171239CV710695single nucleotide variantNM_000111.3(SLC26A3):c.1314C>T (p.Ser438=)Congenital secretory diarrhea, chloride type [RCV001161859]|SLC26A3-related disorder [RCV003928529]|not provided [RCV000972158]benign|likely benign7107779761107779761Human1name , trait , alternate_id
15147973CV735863single nucleotide variantNM_000111.3(SLC26A3):c.1185T>C (p.Thr395=)not provided [RCV000900627]benign7107783028107783028Humanname
15175362CV765982single nucleotide variantNM_000111.3(SLC26A3):c.1455G>A (p.Gly485=)not provided [RCV000928656]likely benign7107778234107778234Humanname
8626304CV81448single nucleotide variantNM_000111.3(SLC26A3):c.1188C>T (p.Ala396=)not provided [RCV003701816]likely benign|not provided7107783025107783025Humanname
28905850CV897220single nucleotide variantNM_000111.3(SLC26A3):c.1482T>C (p.Phe494=)Congenital secretory diarrhea, chloride type [RCV001158652]uncertain significance7107778207107778207Human1name
28906070CV897228single nucleotide variantNM_000111.3(SLC26A3):c.295G>A (p.Asp99Asn)Congenital secretory diarrhea, chloride type [RCV001158761]|Inborn genetic diseases [RCV004032836]|not provided [RCV002032469]likely benign|uncertain significance7107791917107791917Human2name
126736602CV1020326deletionNM_000111.3(SLC26A3):c.*1_*3del (p.Ter765=)Congenital secretory diarrhea, chloride type [RCV001335118]pathogenic7107765852107765854Humanname
127263667CV1060960deletionNM_000111.3(SLC26A3):c.1414del (p.Trp472fs)not provided [RCV001388011]pathogenic7107778275107778275Humanname
127275419CV1095841single nucleotide variantNM_000111.3(SLC26A3):c.530C>T (p.Ala177Val)SLC26A3-related disorder [RCV004751984]|not provided [RCV001443318]likely benign7107791088107791088Human1name , trait , alternate_id
150556359CV1303031deletionNM_000111.3(SLC26A3):c.2211del (p.Asp738fs)not provided [RCV001774224]uncertain significance7107767639107767639Humanname
151890863CV1346799single nucleotide variantNM_000111.3(SLC26A3):c.430G>A (p.Ala144Thr)not provided [RCV002038927]uncertain significance7107791188107791188Humanname
151822061CV1351156single nucleotide variantNM_000111.3(SLC26A3):c.386C>G (p.Pro129Arg)not provided [RCV001992874]uncertain significance7107791232107791232Humanname
151854768CV1353791single nucleotide variantNM_000111.3(SLC26A3):c.427G>C (p.Gly143Arg)not provided [RCV001979389]uncertain significance7107791191107791191Humanname
151844365CV1363436single nucleotide variantNM_000111.3(SLC26A3):c.887T>C (p.Met296Thr)Inborn genetic diseases [RCV002551224]|not provided [RCV002032210]uncertain significance7107787358107787358Human1name
151886228CV1367325single nucleotide variantNM_000111.3(SLC26A3):c.311A>G (p.Tyr104Cys)Inborn genetic diseases [RCV004042464]|not provided [RCV002000642]uncertain significance7107791901107791901Human1name
151875769CV1376286single nucleotide variantNM_000111.3(SLC26A3):c.536C>T (p.Ala179Val)not provided [RCV002019516]uncertain significance7107791082107791082Humanname
151789545CV1377208single nucleotide variantNM_000111.3(SLC26A3):c.304C>T (p.Pro102Ser)not provided [RCV001898043]uncertain significance7107791908107791908Humanname
151887364CV1386256single nucleotide variantNM_000111.3(SLC26A3):c.916G>A (p.Gly306Ser)not provided [RCV001942372]uncertain significance7107786882107786882Humanname
151818127CV1390499single nucleotide variantNM_000111.3(SLC26A3):c.849A>C (p.Lys283Asn)Inborn genetic diseases [RCV002557798]|not provided [RCV001954484]uncertain significance7107787396107787396Human1name
151715762CV1392822single nucleotide variantNM_000111.3(SLC26A3):c.685A>T (p.Ile229Phe)not provided [RCV001908934]uncertain significance7107789574107789574Humanname
151877293CV1395455single nucleotide variantNM_000111.3(SLC26A3):c.755C>T (p.Ser252Leu)not provided [RCV002019692]uncertain significance7107787490107787490Humanname
151823625CV1397769single nucleotide variantNM_000111.3(SLC26A3):c.548C>T (p.Thr183Ile)SLC26A3-related disorder [RCV003978449]|not provided [RCV001975985]uncertain significance7107791070107791070Human1name , trait , alternate_id
151845002CV1420301single nucleotide variantNM_000111.3(SLC26A3):c.692A>C (p.Gln231Pro)not provided [RCV001978160]uncertain significance7107789567107789567Humanname
151720303CV1420807single nucleotide variantNM_000111.3(SLC26A3):c.634G>A (p.Gly212Ser)not provided [RCV002039976]uncertain significance7107789625107789625Humanname
151762791CV1433875single nucleotide variantNM_000111.3(SLC26A3):c.601G>T (p.Val201Leu)not provided [RCV002024570]uncertain significance7107789658107789658Humanname
151783090CV1434544single nucleotide variantNM_000111.3(SLC26A3):c.814G>T (p.Val272Leu)not provided [RCV001897423]uncertain significance7107787431107787431Humanname
151802882CV1437718single nucleotide variantNM_000111.3(SLC26A3):c.971G>T (p.Gly324Val)not provided [RCV001899226]uncertain significance7107786827107786827Humanname
151818389CV1449816single nucleotide variantNM_000111.3(SLC26A3):c.967C>G (p.Pro323Ala)not provided [RCV001878971]uncertain significance7107786831107786831Humanname
151840804CV1463013single nucleotide variantNM_000111.3(SLC26A3):c.824T>C (p.Val275Ala)Inborn genetic diseases [RCV002550491]|not provided [RCV002031795]uncertain significance7107787421107787421Human1name
151807996CV1500708single nucleotide variantNM_000111.3(SLC26A3):c.997G>A (p.Val333Met)not provided [RCV001974508]uncertain significance7107783327107783327Humanname
151741513CV1504254single nucleotide variantNM_000111.3(SLC26A3):c.459T>A (p.Asn153Lys)Inborn genetic diseases [RCV004046042]|not provided [RCV002022366]uncertain significance7107791159107791159Human1name
151796421CV1505628single nucleotide variantNM_000111.3(SLC26A3):c.454C>T (p.Arg152Cys)Inborn genetic diseases [RCV004968335]|not provided [RCV002047587]uncertain significance7107791164107791164Human1name
156273699CV1900084single nucleotide variantNM_000111.3(SLC26A3):c.985A>G (p.Ile329Val)not provided [RCV003086876]uncertain significance7107783339107783339Humanname
156413758CV1901074single nucleotide variantNM_000111.3(SLC26A3):c.940A>C (p.Lys314Gln)Inborn genetic diseases [RCV002588261]|not provided [RCV002588260]uncertain significance7107786858107786858Human1name
156414392CV1912178single nucleotide variantNM_000111.3(SLC26A3):c.464C>T (p.Thr155Ile)Inborn genetic diseases [RCV003294528]|not provided [RCV002588585]uncertain significance7107791154107791154Human1name
156057689CV1930783single nucleotide variantNM_000111.3(SLC26A3):c.533C>T (p.Ala178Val)not provided [RCV002638170]uncertain significance7107791085107791085Humanname
156446550CV1947896single nucleotide variantNM_000111.3(SLC26A3):c.865C>A (p.Pro289Thr)Inborn genetic diseases [RCV004244605]|not provided [RCV003118059]uncertain significance7107787380107787380Human1name
156115614CV1952317single nucleotide variantNM_000111.3(SLC26A3):c.892G>A (p.Val298Met)not provided [RCV002571661]uncertain significance7107786906107786906Humanname
155906219CV1972149single nucleotide variantNM_000111.3(SLC26A3):c.842G>A (p.Arg281His)Congenital secretory diarrhea, chloride type [RCV003988881]|not provided [RCV002613689]uncertain significance7107787403107787403Human1name
156355129CV1975029single nucleotide variantNM_000111.3(SLC26A3):c.301C>A (p.Pro101Thr)not provided [RCV002602109]uncertain significance7107791911107791911Humanname
156405283CV1994328single nucleotide variantNM_000111.3(SLC26A3):c.953T>C (p.Val318Ala)not provided [RCV002658269]uncertain significance7107786845107786845Humanname
156097564CV2004718single nucleotide variantNM_000111.3(SLC26A3):c.934A>G (p.Arg312Gly)not provided [RCV002639456]uncertain significance7107786864107786864Humanname
156292446CV2009804single nucleotide variantNM_000111.3(SLC26A3):c.820A>G (p.Ile274Val)not provided [RCV002715710]uncertain significance7107787425107787425Humanname
156278017CV2011376single nucleotide variantNM_000111.3(SLC26A3):c.355T>C (p.Phe119Leu)not provided [RCV002715202]benign7107791857107791857Humanname
156397428CV2012593single nucleotide variantNM_000111.3(SLC26A3):c.995A>G (p.Asp332Gly)not provided [RCV002725706]uncertain significance7107783329107783329Humanname
156166280CV2019739single nucleotide variantNM_000111.3(SLC26A3):c.898G>A (p.Ala300Thr)not provided [RCV002710348]uncertain significance7107786900107786900Humanname
155979150CV2073263single nucleotide variantNM_000111.3(SLC26A3):c.888G>T (p.Met296Ile)not provided [RCV002842431]uncertain significance7107787357107787357Humanname
155998994CV2092094single nucleotide variantNM_000111.3(SLC26A3):c.718C>A (p.Pro240Thr)not provided [RCV002908533]uncertain significance7107789541107789541Humanname
156232333CV2137106single nucleotide variantNM_000111.3(SLC26A3):c.513C>A (p.Asp171Glu)not provided [RCV003007788]uncertain significance7107791105107791105Humanname
155946492CV2139482single nucleotide variantNM_000111.3(SLC26A3):c.886A>G (p.Met296Val)not provided [RCV002994374]uncertain significance7107787359107787359Humanname
156075568CV2141712single nucleotide variantNM_000111.3(SLC26A3):c.958G>A (p.Asp320Asn)Inborn genetic diseases [RCV004065106]|not provided [RCV002979079]uncertain significance7107786840107786840Human1name
155989990CV2170440single nucleotide variantNM_000111.3(SLC26A3):c.301C>T (p.Pro101Ser)not provided [RCV003034282]uncertain significance7107791911107791911Humanname
156184156CV2178554single nucleotide variantNM_000111.3(SLC26A3):c.998T>C (p.Val333Ala)not provided [RCV003057622]uncertain significance7107783326107783326Humanname
156394786CV2181909single nucleotide variantNM_000111.3(SLC26A3):c.431C>T (p.Ala144Val)Congenital secretory diarrhea, chloride type [RCV005034600]|not provided [RCV003051745]uncertain significance7107791187107791187Human1name
156358353CV2187308single nucleotide variantNM_000111.3(SLC26A3):c.605T>C (p.Val202Ala)not provided [RCV003048846]uncertain significance7107789654107789654Humanname
156298170CV2310593single nucleotide variantNM_000111.3(SLC26A3):c.446T>A (p.Val149Asp)Inborn genetic diseases [RCV002897706]uncertain significance7107791172107791172Human1name
401730760CV2686698single nucleotide variantNM_000111.3(SLC26A3):c.458A>G (p.Asn153Ser)Inborn genetic diseases [RCV003289658]likely benign7107791160107791160Human1name
405172065CV2864386single nucleotide variantNM_000111.3(SLC26A3):c.314G>C (p.Gly105Ala)not provided [RCV003542244]uncertain significance7107791898107791898Humanname
402480124CV2910883deletionNM_000111.3(SLC26A3):c.1281del (p.Ile428fs)not provided [RCV003571985]pathogenic7107782827107782827Humanname
402489365CV2984467single nucleotide variantNM_000111.3(SLC26A3):c.544G>T (p.Val182Phe)Inborn genetic diseases [RCV004371693]|not provided [RCV003713624]uncertain significance7107791074107791074Human1name
405223017CV2986366deletionNM_000111.3(SLC26A3):c.1562del (p.Lys521fs)not provided [RCV003680980]pathogenic7107776659107776659Humanname
402488022CV2999070deletionNM_000111.3(SLC26A3):c.1674del (p.Asp558fs)Congenital secretory diarrhea, chloride type [RCV005036931]|not provided [RCV003687120]pathogenic|likely pathogenic7107776455107776455Human1name
402487268CV2999183deletionNM_000111.3(SLC26A3):c.1066del (p.Ser356fs)not provided [RCV003687188]pathogenic7107783258107783258Humanname
11586233CV301452single nucleotide variantNM_000111.3(SLC26A3):c.711C>G (p.His237Gln)Congenital secretory diarrhea, chloride type [RCV000286342]|Inborn genetic diseases [RCV002523580]|not provided [RCV001861297]likely benign|uncertain significance7107789548107789548Human2name
405140257CV3029844single nucleotide variantNM_000111.3(SLC26A3):c.814G>C (p.Val272Leu)not provided [RCV003702446]uncertain significance7107787431107787431Humanname
11605670CV304700single nucleotide variantNM_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 significance7107789669107789669Human2name
405207164CV3064482duplicationNM_000111.3(SLC26A3):c.2116dup (p.Ser706fs)not provided [RCV003731459]pathogenic7107767854107767855Humanname
11606335CV309477single nucleotide variantNM_000111.3(SLC26A3):c.921T>G (p.Cys307Trp)Congenital secretory diarrhea, chloride type [RCV000330158]|not provided [RCV001515481]benign|likely benign7107786877107786877Human1name
11656996CV309485single nucleotide variantNM_000111.3(SLC26A3):c.510T>G (p.Asp170Glu)Congenital secretory diarrhea, chloride type [RCV000338111]uncertain significance7107791108107791108Human1name
8600312CV31794single nucleotide variantNM_000111.3(SLC26A3):c.371A>T (p.His124Leu)Congenital secretory diarrhea, chloride type [RCV000018240]pathogenic7107791841107791841Human1name
8600314CV31798single nucleotide variantNM_000111.3(SLC26A3):c.559G>T (p.Gly187Ter)Congenital secretory diarrhea, chloride type [RCV000018244]|not provided [RCV000522939]pathogenic7107791059107791059Human1name
405769126CV3321851single nucleotide variantNM_000111.3(SLC26A3):c.298A>G (p.Ile100Val)Inborn genetic diseases [RCV004456670]uncertain significance7107791914107791914Human1name
405769138CV3321853single nucleotide variantNM_000111.3(SLC26A3):c.841C>T (p.Arg281Cys)Inborn genetic diseases [RCV004456672]uncertain significance7107787404107787404Human1name
407475312CV3414343deletionNM_000111.3(SLC26A3):c.1262del (p.Val421fs)Congenital secretory diarrhea, chloride type [RCV004596679]likely pathogenic7107782846107782846Human1name
407451312CV3474071single nucleotide variantNM_000111.3(SLC26A3):c.431C>A (p.Ala144Glu)Inborn genetic diseases [RCV004683625]uncertain significance7107791187107791187Human1name
408365264CV3500693single nucleotide variantNM_000111.3(SLC26A3):c.874A>G (p.Ile292Val)Congenital secretory diarrhea, chloride type [RCV004720689]uncertain significance7107787371107787371Human1name
408384049CV3525893single nucleotide variantNM_000111.3(SLC26A3):c.391C>T (p.Pro131Ser)not specified [RCV004766803]uncertain significance7107791227107791227Humanname
596920320CV3534501single nucleotide variantNM_000111.3(SLC26A3):c.647C>T (p.Ala216Val)not specified [RCV004782062]uncertain significance7107789612107789612Humanname
597639711CV3606493single nucleotide variantNM_000111.3(SLC26A3):c.485A>G (p.Asn162Ser)Inborn genetic diseases [RCV004971291]likely benign7107791133107791133Human1name
597639731CV3606500single nucleotide variantNM_000111.3(SLC26A3):c.914A>G (p.Tyr305Cys)Inborn genetic diseases [RCV004971297]uncertain significance7107786884107786884Human1name
12833600CV370663single nucleotide variantNM_000111.3(SLC26A3):c.357C>A (p.Phe119Leu)Congenital secretory diarrhea, chloride type [RCV001158760]|not provided [RCV000514750]benign|likely benign7107791855107791855Human1name
597686595CV3718761single nucleotide variantNM_000111.3(SLC26A3):c.877G>A (p.Glu293Lys)Congenital secretory diarrhea, chloride type [RCV005045913]likely pathogenic7107787368107787368Human1name
597838500CV3736909deletionNM_000111.3(SLC26A3):c.1551del (p.Asn518fs)not provided [RCV005064389]pathogenic7107776670107776670Humanname
597868526CV3783954single nucleotide variantNM_000111.3(SLC26A3):c.996C>G (p.Asp332Glu)not provided [RCV005122257]uncertain significance7107783328107783328Humanname
598169335CV3918317single nucleotide variantNM_000111.3(SLC26A3):c.583A>G (p.Ile195Val)Inborn genetic diseases [RCV005284251]likely benign7107789676107789676Human1name
8616708CV70609deletionNM_000111.3(SLC26A3):c.1362del (p.Gln454fs)Congenital secretory diarrhea, chloride type [RCV000049379]likely pathogenic7107779713107779713Human1name
8616715CV70616deletionNM_000111.3(SLC26A3):c.1517del (p.Pro506fs)Congenital secretory diarrhea, chloride type [RCV000049386]likely pathogenic7107776704107776704Human1name
8616721CV70622deletionNM_000111.3(SLC26A3):c.1609del (p.Ile537fs)Congenital secretory diarrhea, chloride type [RCV000049392]|not provided [RCV003556121]pathogenic|likely pathogenic7107776520107776520Human1name
8616729CV70630deletionNM_000111.3(SLC26A3):c.2116del (p.Ser706fs)Congenital secretory diarrhea, chloride type [RCV000049400]likely pathogenic7107767855107767855Human1name
8616735CV70636single nucleotide variantNM_000111.3(SLC26A3):c.358G>A (p.Gly120Ser)Congenital secretory diarrhea, chloride type [RCV000049406]|SLC26A3-related disorder [RCV004751246]|not provided [RCV003556125]pathogenic|likely pathogenic7107791854107791854Human1name , trait , alternate_id
8616736CV70637single nucleotide variantNM_000111.3(SLC26A3):c.386C>T (p.Pro129Leu)Congenital secretory diarrhea, chloride type [RCV000049407]|not provided [RCV002513683]likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance7107791232107791232Human1name
8616737CV70638single nucleotide variantNM_000111.3(SLC26A3):c.392C>G (p.Pro131Arg)Congenital secretory diarrhea, chloride type [RCV000049408]|not provided [RCV003556126]pathogenic|likely pathogenic|uncertain significance7107791226107791226Human1name
8616738CV70639single nucleotide variantNM_000111.3(SLC26A3):c.392C>T (p.Pro131Leu)Congenital secretory diarrhea, chloride type [RCV000049409]|not provided [RCV003556127]pathogenic|likely pathogenic7107791226107791226Human1name
8616740CV70641single nucleotide variantNM_000111.3(SLC26A3):c.408G>A (p.Met136Ile)Congenital secretory diarrhea, chloride type [RCV000049411]likely pathogenic7107791210107791210Human1name
8616741CV70642single nucleotide variantNM_000111.3(SLC26A3):c.525G>C (p.Arg175Ser)Congenital secretory diarrhea, chloride type [RCV000049412]likely pathogenic7107791093107791093Human1name
8616744CV70645single nucleotide variantNM_000111.3(SLC26A3):c.610T>G (p.Tyr204Asp)Congenital secretory diarrhea, chloride type [RCV000049415]|not specified [RCV004767046]likely pathogenic|uncertain significance7107789649107789649Human1name
8616745CV70646single nucleotide variantNM_000111.3(SLC26A3):c.616T>C (p.Ser206Pro)Congenital secretory diarrhea, chloride type [RCV000049416]likely pathogenic7107789643107789643Human1name
8616746CV70647single nucleotide variantNM_000111.3(SLC26A3):c.659A>C (p.His220Pro)Congenital secretory diarrhea, chloride type [RCV000049417]likely pathogenic7107789600107789600Human1name
8616747CV70648single nucleotide variantNM_000111.3(SLC26A3):c.915C>A (p.Tyr305Ter)Congenital secretory diarrhea, chloride type [RCV000049418]|not provided [RCV003556128]pathogenic|likely pathogenic7107786883107786883Human1name
21072230CV792765deletionNM_000111.3(SLC26A3):c.1652del (p.Phe551fs)Congenital secretory diarrhea, chloride type [RCV000991385]likely pathogenic7107776477107776477Human1name
28870829CV897224single nucleotide variantNM_000111.3(SLC26A3):c.623C>A (p.Ser208Tyr)Congenital secretory diarrhea, chloride type [RCV001163681]uncertain significance7107789636107789636Human1name
28870832CV897225single nucleotide variantNM_000111.3(SLC26A3):c.529G>A (p.Ala177Thr)Congenital secretory diarrhea, chloride type [RCV001163682]|not provided [RCV002032507]uncertain significance7107791089107791089Human1name
28870834CV897226single nucleotide variantNM_000111.3(SLC26A3):c.455G>A (p.Arg152His)Congenital secretory diarrhea, chloride type [RCV001163683]|Inborn genetic diseases [RCV002559569]|not provided [RCV002032508]uncertain significance7107791163107791163Human2name
28870837CV897227single nucleotide variantNM_000111.3(SLC26A3):c.404T>C (p.Met135Thr)Congenital secretory diarrhea, chloride type [RCV001163684]|Inborn genetic diseases [RCV004963165]uncertain significance7107791214107791214Human2name
126766722CV1007086single nucleotide variantNM_000111.3(SLC26A3):c.2275C>T (p.Pro759Ser)not provided [RCV001320558]uncertain significance7107765875107765875Humanname
126748265CV1007087single nucleotide variantNM_000111.3(SLC26A3):c.1793T>A (p.Val598Asp)not provided [RCV001315502]uncertain significance7107774134107774134Humanname
126736596CV1020327single nucleotide variantNM_000111.3(SLC26A3):c.1101T>G (p.Tyr367Ter)not provided [RCV003707840]pathogenic7107783223107783223Humanname
126775041CV1027603single nucleotide variantNM_000111.3(SLC26A3):c.1649G>C (p.Gly550Ala)Inborn genetic diseases [RCV003246913]|not provided [RCV001347925]uncertain significance7107776480107776480Human1name
126919672CV1044561single nucleotide variantNM_000111.3(SLC26A3):c.1384T>C (p.Trp462Arg)not provided [RCV001373368]uncertain significance7107779691107779691Humanname
150557055CV1310382single nucleotide variantNM_000111.3(SLC26A3):c.1307A>G (p.Gln436Arg)Congenital secretory diarrhea, chloride type [RCV001775310]likely pathogenic7107782801107782801Human1name
150546751CV1313888single nucleotide variantNM_000111.3(SLC26A3):c.1021G>T (p.Gly341Ter)not provided [RCV003577338]pathogenic7107783303107783303Humanname
151892250CV1337523single nucleotide variantNM_000111.3(SLC26A3):c.1670T>C (p.Ile557Thr)not provided [RCV001943917]uncertain significance7107776459107776459Humanname
151727887CV1338708single nucleotide variantNM_000111.3(SLC26A3):c.1193C>T (p.Ser398Phe)not provided [RCV002004477]|not specified [RCV003331245]uncertain significance7107783020107783020Humanname
151863790CV1348052single nucleotide variantNM_000111.3(SLC26A3):c.2050G>A (p.Val684Ile)Inborn genetic diseases [RCV002569264]|not provided [RCV001959571]uncertain significance7107772066107772066Human1name
151810151CV1348422single nucleotide variantNM_000111.3(SLC26A3):c.1315G>A (p.Val439Ile)Inborn genetic diseases [RCV004039603]|not provided [RCV001878186]uncertain significance7107779760107779760Human1name
151877456CV1361428single nucleotide variantNM_000111.3(SLC26A3):c.1836G>T (p.Gln612His)not provided [RCV001926003]uncertain significance7107774091107774091Humanname
151861315CV1364906single nucleotide variantNM_000111.3(SLC26A3):c.1702C>G (p.Leu568Val)not provided [RCV002017789]uncertain significance7107774848107774848Humanname
151772491CV1368446single nucleotide variantNM_000111.3(SLC26A3):c.2255G>A (p.Arg752His)not provided [RCV001950298]uncertain significance7107767595107767595Humanname
151844660CV1372240single nucleotide variantNM_000111.3(SLC26A3):c.1177G>T (p.Gly393Trp)Congenital secretory diarrhea, chloride type [RCV005042624]|not provided [RCV001995177]likely pathogenic7107783036107783036Human1name
151876790CV1372986single nucleotide variantNM_000111.3(SLC26A3):c.1619G>T (p.Cys540Phe)not provided [RCV002019637]uncertain significance7107776510107776510Humanname
151875927CV1376350single nucleotide variantNM_000111.3(SLC26A3):c.1821G>C (p.Glu607Asp)not provided [RCV002019535]uncertain significance7107774106107774106Humanname
151813111CV1382601single nucleotide variantNM_000111.3(SLC26A3):c.1621C>T (p.Pro541Ser)not provided [RCV002049047]uncertain significance7107776508107776508Humanname
151839268CV1382869single nucleotide variantNM_000111.3(SLC26A3):c.1039G>T (p.Ala347Ser)not provided [RCV002031621]uncertain significance7107783285107783285Humanname
151830632CV1384469single nucleotide variantNM_000111.3(SLC26A3):c.1697G>A (p.Arg566Gln)not provided [RCV001955647]uncertain significance7107774853107774853Humanname
151739940CV1386410single nucleotide variantNM_000111.3(SLC26A3):c.2260C>T (p.Arg754Trp)not provided [RCV001893169]uncertain significance7107767590107767590Humanname
151737009CV1388051single nucleotide variantNM_000111.3(SLC26A3):c.1786T>C (p.Cys596Arg)not provided [RCV002005414]uncertain significance7107774141107774141Humanname
151879718CV1388313single nucleotide variantNM_000111.3(SLC26A3):c.1684T>G (p.Phe562Val)not provided [RCV001982358]uncertain significance7107774866107774866Humanname
151711488CV1395092single nucleotide variantNM_000111.3(SLC26A3):c.2051T>C (p.Val684Ala)Inborn genetic diseases [RCV002569311]|not provided [RCV001964392]uncertain significance7107772065107772065Human1name
151792456CV1399352single nucleotide variantNM_000111.3(SLC26A3):c.2276C>T (p.Pro759Leu)not provided [RCV001898305]uncertain significance7107765874107765874Humanname
151760426CV1404004single nucleotide variantNM_000111.3(SLC26A3):c.2099T>C (p.Phe700Ser)not provided [RCV002007795]uncertain significance7107767872107767872Humanname
151864898CV1405898single nucleotide variantNM_000111.3(SLC26A3):c.2120C>T (p.Ser707Leu)not provided [RCV001959705]uncertain significance7107767851107767851Humanname
151811946CV1417533single nucleotide variantNM_000111.3(SLC26A3):c.1579T>G (p.Tyr527Asp)Inborn genetic diseases [RCV003382802]|not provided [RCV002029055]uncertain significance7107776642107776642Human1name
151746050CV1433061single nucleotide variantNM_000111.3(SLC26A3):c.2110G>A (p.Val704Met)not provided [RCV001985737]uncertain significance7107767861107767861Humanname
151715815CV1434897single nucleotide variantNM_000111.3(SLC26A3):c.2006C>T (p.Ser669Leu)not provided [RCV001890312]uncertain significance7107773921107773921Humanname
151842199CV1436115single nucleotide variantNM_000111.3(SLC26A3):c.1828A>G (p.Asn610Asp)not provided [RCV001956891]uncertain significance7107774099107774099Humanname
151871950CV1436733single nucleotide variantNM_000111.3(SLC26A3):c.1736G>A (p.Arg579Gln)not provided [RCV001998462]uncertain significance7107774814107774814Humanname
151794721CV1437382single nucleotide variantNM_000111.3(SLC26A3):c.1382T>C (p.Leu461Ser)not provided [RCV001876835]uncertain significance7107779693107779693Humanname
151711361CV1440034single nucleotide variantNM_000111.3(SLC26A3):c.2117G>A (p.Ser706Asn)not provided [RCV001908076]uncertain significance7107767854107767854Humanname
151837629CV1445212single nucleotide variantNM_000111.3(SLC26A3):c.1712G>A (p.Arg571His)not provided [RCV001994363]uncertain significance7107774838107774838Humanname
151799275CV1445884single nucleotide variantNM_000111.3(SLC26A3):c.1676C>T (p.Ala559Val)not provided [RCV002011414]uncertain significance7107776453107776453Humanname
151827084CV1447323single nucleotide variantNM_000111.3(SLC26A3):c.2222T>C (p.Ile741Thr)not provided [RCV001870165]uncertain significance7107767628107767628Humanname
151795099CV1448851single nucleotide variantNM_000111.3(SLC26A3):c.1018G>A (p.Val340Ile)not provided [RCV001990430]uncertain significance7107783306107783306Humanname
151885384CV1451577single nucleotide variantNM_000111.3(SLC26A3):c.1008C>G (p.Phe336Leu)not provided [RCV002000472]uncertain significance7107783316107783316Humanname
151731632CV1454249single nucleotide variantNM_000111.3(SLC26A3):c.1660C>T (p.Arg554Trp)Inborn genetic diseases [RCV003167319]|not provided [RCV001967170]uncertain significance7107776469107776469Human1name
151739725CV1455240single nucleotide variantNM_000111.3(SLC26A3):c.1922T>A (p.Val641Asp)not provided [RCV002005696]uncertain significance7107774005107774005Humanname
151740731CV1455371single nucleotide variantNM_000111.3(SLC26A3):c.2045A>G (p.Tyr682Cys)not provided [RCV002005796]uncertain significance7107772071107772071Humanname
151751688CV1457349single nucleotide variantNM_000111.3(SLC26A3):c.1438A>G (p.Ile480Val)not provided [RCV001913045]uncertain significance7107778251107778251Humanname
151863439CV1460857indelNM_000111.3(SLC26A3):c.2063-4_2063-3delinsAAnot provided [RCV001905595]uncertain significance7107767911107767912Humanname
151716062CV1470519single nucleotide variantNM_000111.3(SLC26A3):c.1886T>C (p.Ile629Thr)not provided [RCV001908980]uncertain significance7107774041107774041Humanname
151872526CV1470814single nucleotide variantNM_000111.3(SLC26A3):c.1078G>A (p.Val360Ile)not provided [RCV001925404]uncertain significance7107783246107783246Humanname
151843080CV1475535single nucleotide variantNM_000111.3(SLC26A3):c.2169G>T (p.Lys723Asn)not provided [RCV001994996]uncertain significance7107767802107767802Humanname
151808707CV1476297single nucleotide variantNM_000111.3(SLC26A3):c.1541T>C (p.Ile514Thr)Inborn genetic diseases [RCV004968375]|not provided [RCV001899738]uncertain significance7107776680107776680Human1name
151722949CV1498248single nucleotide variantNM_000111.3(SLC26A3):c.1832A>G (p.Asn611Ser)not provided [RCV001983333]uncertain significance7107774095107774095Humanname
151710245CV1511741single nucleotide variantNM_000111.3(SLC26A3):c.2231C>T (p.Thr744Ile)not provided [RCV002001808]uncertain significance7107767619107767619Humanname
152112677CV1541957single nucleotide variantNM_000111.3(SLC26A3):c.2062G>C (p.Asp688His)not provided [RCV002116761]benign7107772054107772054Humanname
152090864CV1654925single nucleotide variantNM_000111.3(SLC26A3):c.1495A>G (p.Ile499Val)Inborn genetic diseases [RCV004045614]|not provided [RCV002212705]likely benign|uncertain significance7107778194107778194Human1name
155709420CV1775739single nucleotide variantNM_000111.3(SLC26A3):c.1027T>C (p.Cys343Arg)not provided [RCV002296128]uncertain significance7107783297107783297Humanname
156392234CV1869567single nucleotide variantNM_000111.3(SLC26A3):c.1645A>G (p.Ile549Val)not provided [RCV003051455]uncertain significance7107776484107776484Humanname
156045572CV1914806single nucleotide variantNM_000111.3(SLC26A3):c.1816G>A (p.Glu606Lys)not provided [RCV002620423]likely benign7107774111107774111Humanname
156364577CV1928595single nucleotide variantNM_000111.3(SLC26A3):c.2021T>A (p.Phe674Tyr)not provided [RCV002632914]uncertain significance7107772095107772095Humanname
156283689CV1929612single nucleotide variantNM_000111.3(SLC26A3):c.2254C>T (p.Arg752Cys)not provided [RCV002628525]uncertain significance7107767596107767596Humanname
156438559CV1947169single nucleotide variantNM_000111.3(SLC26A3):c.2190G>C (p.Lys730Asn)not provided [RCV003108503]uncertain significance7107767781107767781Humanname
156224429CV1960453single nucleotide variantNM_000111.3(SLC26A3):c.2168A>T (p.Lys723Met)not provided [RCV002575649]uncertain significance7107767803107767803Humanname
156171351CV1968340single nucleotide variantNM_000111.3(SLC26A3):c.1225A>G (p.Lys409Glu)not provided [RCV002594780]uncertain significance7107782988107782988Humanname
156417119CV1970215single nucleotide variantNM_000111.3(SLC26A3):c.1454G>A (p.Gly485Glu)Inborn genetic diseases [RCV003289540]|not provided [RCV002590036]uncertain significance7107778235107778235Human1name
156044556CV1977980single nucleotide variantNM_000111.3(SLC26A3):c.1858A>G (p.Ile620Val)not provided [RCV002590451]uncertain significance7107774069107774069Humanname
155966226CV1978078single nucleotide variantNM_000111.3(SLC26A3):c.2061T>A (p.Asp687Glu)not provided [RCV002616967]uncertain significance7107772055107772055Humanname
156344327CV1981774single nucleotide variantNM_000111.3(SLC26A3):c.1711C>T (p.Arg571Cys)not provided [RCV002631597]uncertain significance7107774839107774839Humanname
156327853CV1990686single nucleotide variantNM_000111.3(SLC26A3):c.2023A>T (p.Ile675Phe)not provided [RCV002630756]uncertain significance7107772093107772093Humanname
156311426CV2000106single nucleotide variantNM_000111.3(SLC26A3):c.1246A>G (p.Ile416Val)not provided [RCV002671658]uncertain significance7107782862107782862Humanname
156028813CV2004785single nucleotide variantNM_000111.3(SLC26A3):c.1711C>A (p.Arg571Ser)not provided [RCV002658568]uncertain significance7107774839107774839Humanname
156077284CV2011847single nucleotide variantNM_000111.3(SLC26A3):c.1422G>A (p.Met474Ile)not provided [RCV002705874]uncertain significance7107778267107778267Humanname
156398686CV2013099single nucleotide variantNM_000111.3(SLC26A3):c.2143G>A (p.Asp715Asn)not provided [RCV002725813]|not specified [RCV005406507]pathogenic|uncertain significance7107767828107767828Humanname
156119089CV2013537single nucleotide variantNM_000111.3(SLC26A3):c.2248G>A (p.Gly750Arg)not provided [RCV002740128]uncertain significance7107767602107767602Humanname
156123998CV2021109single nucleotide variantNM_000111.3(SLC26A3):c.1720G>A (p.Ala574Thr)not provided [RCV002740308]uncertain significance7107774830107774830Humanname
156322386CV2022223single nucleotide variantNM_000111.3(SLC26A3):c.1096G>A (p.Asp366Asn)not provided [RCV002717181]uncertain significance7107783228107783228Humanname
155971274CV2024793single nucleotide variantNM_000111.3(SLC26A3):c.2176T>A (p.Tyr726Asn)not provided [RCV002754903]uncertain significance7107767795107767795Humanname
156225330CV2064272single nucleotide variantNM_000111.3(SLC26A3):c.1964C>T (p.Ala655Val)not provided [RCV002829845]uncertain significance7107773963107773963Humanname
156021139CV2111031single nucleotide variantNM_000111.3(SLC26A3):c.1838T>C (p.Ile613Thr)Inborn genetic diseases [RCV002909618]|not provided [RCV002932300]uncertain significance7107774089107774089Human1name
156366708CV2116652single nucleotide variantNM_000111.3(SLC26A3):c.2279T>G (p.Val760Gly)not provided [RCV002942005]uncertain significance7107765871107765871Humanname
156367321CV2116831single nucleotide variantNM_000111.3(SLC26A3):c.1168G>A (p.Gly390Arg)not provided [RCV002942052]uncertain significance7107783045107783045Humanname
156019485CV2118501single nucleotide variantNM_000111.3(SLC26A3):c.1498G>A (p.Val500Met)not provided [RCV002948703]uncertain significance7107778191107778191Humanname
156214474CV2127915single nucleotide variantNM_000111.3(SLC26A3):c.1672G>A (p.Asp558Asn)not provided [RCV002957886]uncertain significance7107776457107776457Humanname
156194199CV2171421single nucleotide variantNM_000111.3(SLC26A3):c.1885A>C (p.Ile629Leu)not provided [RCV003024231]uncertain significance7107774042107774042Humanname
156112480CV2171773single nucleotide variantNM_000111.3(SLC26A3):c.2040T>A (p.Asp680Glu)not provided [RCV003039001]uncertain significance7107772076107772076Humanname
156216793CV2176698single nucleotide variantNM_000111.3(SLC26A3):c.1673A>C (p.Asp558Ala)not provided [RCV003025033]uncertain significance7107776456107776456Humanname
156038947CV2261170single nucleotide variantNM_000111.3(SLC26A3):c.1754G>A (p.Gly585Asp)Inborn genetic diseases [RCV002821599]uncertain significance7107774796107774796Human1name
156015216CV2298713single nucleotide variantNM_000111.3(SLC26A3):c.1688G>A (p.Ser563Asn)Inborn genetic diseases [RCV002884479]likely benign7107774862107774862Human1name
156055599CV2308807single nucleotide variantNM_000111.3(SLC26A3):c.1220G>A (p.Gly407Glu)Inborn genetic diseases [RCV002911464]uncertain significance7107782993107782993Human1name
243062517CV2404963single nucleotide variantNM_000111.3(SLC26A3):c.1120G>C (p.Glu374Gln)Congenital secretory diarrhea, chloride type [RCV003140513]uncertain significance7107783093107783093Human1name
243060626CV2408626single nucleotide variantNM_000111.3(SLC26A3):c.1728G>C (p.Arg576Ser)Congenital secretory diarrhea, chloride type [RCV003136755]|Inborn genetic diseases [RCV004963558]uncertain significance7107774822107774822Human2name
401940623CV2671932single nucleotide variantNM_000111.3(SLC26A3):c.1679T>A (p.Val560Asp)Congenital secretory diarrhea, chloride type [RCV003459815]pathogenic7107774871107774871Human1name
401720891CV2737346single nucleotide variantNM_000111.3(SLC26A3):c.1511A>C (p.Gln504Pro)Congenital secretory diarrhea, chloride type [RCV003314285]uncertain significance7107778178107778178Human1name
401797289CV2742119single nucleotide variantNM_000111.3(SLC26A3):c.1372A>G (p.Ile458Val)not specified [RCV003324297]uncertain significance7107779703107779703Humanname
401863775CV2770822single nucleotide variantNM_000111.3(SLC26A3):c.1646T>A (p.Ile549Asn)Inborn genetic diseases [RCV003359114]uncertain significance7107776483107776483Human1name
401933642CV2799416single nucleotide variantNM_000111.3(SLC26A3):c.1416G>A (p.Trp472Ter)SLC26A3-related disorder [RCV003410516]likely pathogenic7107778273107778273Humanname , trait , alternate_id
401902659CV2799467single nucleotide variantNM_000111.3(SLC26A3):c.1190T>G (p.Leu397Arg)SLC26A3-related disorder [RCV003418978]uncertain significance7107783023107783023Humanname , trait , alternate_id
401964004CV2843447single nucleotide variantNM_000111.3(SLC26A3):c.1181G>T (p.Ser394Ile)not provided [RCV003553993]|not specified [RCV003479789]pathogenic|uncertain significance7107783032107783032Humanname
405068296CV2875630single nucleotide variantNM_000111.3(SLC26A3):c.1735C>T (p.Arg579Ter)Congenital secretory diarrhea, chloride type [RCV005047648]|not provided [RCV003548375]pathogenic7107774815107774815Human1name
405216791CV2897201single nucleotide variantNM_000111.3(SLC26A3):c.2092G>T (p.Glu698Ter)not provided [RCV003567883]pathogenic7107767879107767879Humanname
405208575CV2909282single nucleotide variantNM_000111.3(SLC26A3):c.1407T>A (p.Cys469Ter)not provided [RCV003566806]pathogenic7107779668107779668Humanname
405186077CV2921384single nucleotide variantNM_000111.3(SLC26A3):c.2017G>T (p.Glu673Ter)not provided [RCV003564468]pathogenic7107772099107772099Humanname
405113830CV2948768single nucleotide variantNM_000111.3(SLC26A3):c.1750C>T (p.Gln584Ter)not provided [RCV003666667]pathogenic7107774800107774800Humanname
405248491CV3003685single nucleotide variantNM_000111.3(SLC26A3):c.1369G>T (p.Glu457Ter)not provided [RCV003721130]pathogenic7107779706107779706Humanname
402489913CV3011650single nucleotide variantNM_000111.3(SLC26A3):c.1483C>T (p.Gln495Ter)not provided [RCV003687435]pathogenic7107778206107778206Humanname
11588470CV301443single nucleotide variantNM_000111.3(SLC26A3):c.1786T>G (p.Cys596Gly)Congenital secretory diarrhea, chloride type [RCV000303361]|Inborn genetic diseases [RCV002524518]|not provided [RCV002058644]benign|uncertain significance7107774141107774141Human2name
11592520CV301444single nucleotide variantNM_000111.3(SLC26A3):c.1744C>G (p.Gln582Glu)Congenital secretory diarrhea, chloride type [RCV000339526]|not provided [RCV001861296]uncertain significance7107774806107774806Human1name
402487551CV3034018single nucleotide variantNM_000111.3(SLC26A3):c.1009C>T (p.Gln337Ter)not provided [RCV003713384]pathogenic7107783315107783315Humanname
11610504CV309310single nucleotide variantNM_000111.3(SLC26A3):c.2258A>G (p.Asn753Ser)Congenital secretory diarrhea, chloride type [RCV000382696]|not provided [RCV000956520]benign|likely benign7107767592107767592Human1name
11651565CV309321single nucleotide variantNM_000111.3(SLC26A3):c.1675G>C (p.Ala559Pro)Congenital secretory diarrhea, chloride type [RCV000299896]uncertain significance7107776454107776454Human1name
11608370CV309330single nucleotide variantNM_000111.3(SLC26A3):c.1529C>T (p.Thr510Met)Congenital secretory diarrhea, chloride type [RCV000354498]|not provided [RCV000889676]benign|likely benign7107776692107776692Human1name
11664345CV309331single nucleotide variantNM_000111.3(SLC26A3):c.1402G>A (p.Asp468Asn)Congenital secretory diarrhea, chloride type [RCV000404954]uncertain significance7107779673107779673Human1name
11649561CV309470single nucleotide variantNM_000111.3(SLC26A3):c.2155C>T (p.His719Tyr)Congenital secretory diarrhea, chloride type [RCV000288289]uncertain significance7107767816107767816Human1name
11607390CV309474single nucleotide variantNM_000111.3(SLC26A3):c.2092G>C (p.Glu698Gln)Congenital secretory diarrhea, chloride type [RCV000343129]|not provided [RCV000959676]benign|uncertain significance7107767879107767879Human1name
8600315CV31800single nucleotide variantNM_000111.3(SLC26A3):c.1386G>A (p.Trp462Ter)Congenital secretory diarrhea, chloride type [RCV000018246]pathogenic7107779689107779689Human1name
405769114CV3321849single nucleotide variantNM_000111.3(SLC26A3):c.1681G>T (p.Gly561Cys)Inborn genetic diseases [RCV004456668]uncertain significance7107774869107774869Human1name
405769120CV3321850single nucleotide variantNM_000111.3(SLC26A3):c.2125T>A (p.Phe709Ile)Inborn genetic diseases [RCV004456669]uncertain significance7107767846107767846Human1name
407509453CV3474067single nucleotide variantNM_000111.3(SLC26A3):c.1721C>T (p.Ala574Val)Inborn genetic diseases [RCV004672379]uncertain significance7107774829107774829Human1name
407509455CV3474068single nucleotide variantNM_000111.3(SLC26A3):c.2071A>T (p.Ile691Phe)Inborn genetic diseases [RCV004672380]uncertain significance7107767900107767900Human1name
407509458CV3474069single nucleotide variantNM_000111.3(SLC26A3):c.1521A>T (p.Lys507Asn)Inborn genetic diseases [RCV004672381]uncertain significance7107776700107776700Human1name
407509461CV3474070single nucleotide variantNM_000111.3(SLC26A3):c.1415G>T (p.Trp472Leu)Inborn genetic diseases [RCV004672382]uncertain significance7107778274107778274Human1name
407451314CV3474074single nucleotide variantNM_000111.3(SLC26A3):c.1604T>C (p.Val535Ala)Inborn genetic diseases [RCV004683626]uncertain significance7107776525107776525Human1name
407509468CV3474075single nucleotide variantNM_000111.3(SLC26A3):c.2263G>A (p.Val755Ile)Inborn genetic diseases [RCV004672385]uncertain significance7107767587107767587Human1name
597639715CV3606494single nucleotide variantNM_000111.3(SLC26A3):c.1298C>T (p.Ala433Val)Inborn genetic diseases [RCV004971292]uncertain significance7107782810107782810Human1name
597639718CV3606495single nucleotide variantNM_000111.3(SLC26A3):c.2107G>A (p.Glu703Lys)Inborn genetic diseases [RCV004971293]uncertain significance7107767864107767864Human1name
597639721CV3606496single nucleotide variantNM_000111.3(SLC26A3):c.1258A>G (p.Ile420Val)Inborn genetic diseases [RCV004971294]uncertain significance7107782850107782850Human1name
597639727CV3606499single nucleotide variantNM_000111.3(SLC26A3):c.1582G>C (p.Asp528His)Inborn genetic diseases [RCV004971296]uncertain significance7107776639107776639Human1name
597639736CV3606501single nucleotide variantNM_000111.3(SLC26A3):c.2137A>G (p.Ile713Val)Inborn genetic diseases [RCV004971298]uncertain significance7107767834107767834Human1name
597686553CV3718750duplicationNM_000111.3(SLC26A3):c.2100dup (p.Asp701Ter)Congenital secretory diarrhea, chloride type [RCV005045908]likely pathogenic7107767870107767871Human1name
597686561CV3718752single nucleotide variantNM_000111.3(SLC26A3):c.1954G>A (p.Asp652Asn)Congenital secretory diarrhea, chloride type [RCV005045909]likely pathogenic7107773973107773973Human1name
597701226CV3718753single nucleotide variantNM_000111.3(SLC26A3):c.1843G>A (p.Val615Ile)Congenital secretory diarrhea, chloride type [RCV005033528]uncertain significance7107774084107774084Human1name
597701243CV3718755single nucleotide variantNM_000111.3(SLC26A3):c.1409T>G (p.Leu470Ter)Congenital secretory diarrhea, chloride type [RCV005033530]likely pathogenic7107778280107778280Human1name
597701251CV3718756single nucleotide variantNM_000111.3(SLC26A3):c.1312T>C (p.Ser438Pro)Congenital secretory diarrhea, chloride type [RCV005033531]likely pathogenic7107779763107779763Human1name
597686570CV3718757single nucleotide variantNM_000111.3(SLC26A3):c.1120G>T (p.Glu374Ter)Congenital secretory diarrhea, chloride type [RCV005045910]likely pathogenic7107783093107783093Human1name
597686576CV3718759single nucleotide variantNM_000111.3(SLC26A3):c.1039G>A (p.Ala347Thr)Congenital secretory diarrhea, chloride type [RCV005045911]likely pathogenic7107783285107783285Human1name
597856849CV3748099single nucleotide variantNM_000111.3(SLC26A3):c.2233A>G (p.Ile745Val)not provided [RCV005066921]uncertain significance7107767617107767617Humanname
598169339CV3918318single nucleotide variantNM_000111.3(SLC26A3):c.1849G>A (p.Asp617Asn)Inborn genetic diseases [RCV005284252]uncertain significance7107774078107774078Human1name
14698170CV623296single nucleotide variantNM_000111.3(SLC26A3):c.1082A>G (p.Tyr361Cys)Congenital secretory diarrhea, chloride type [RCV000786874]|not provided [RCV001856209]uncertain significance7107783242107783242Human1name
8616700CV70601single nucleotide variantNM_000111.3(SLC26A3):c.1028G>A (p.Cys343Tyr)Congenital secretory diarrhea, chloride type [RCV000049371]likely pathogenic7107783296107783296Human1name
8616702CV70603single nucleotide variantNM_000111.3(SLC26A3):c.1136G>C (p.Gly379Ala)Congenital secretory diarrhea, chloride type [RCV000049373]|not provided [RCV001853036]likely pathogenic|uncertain significance7107783077107783077Human1name
8616704CV70605single nucleotide variantNM_000111.3(SLC26A3):c.1306C>T (p.Gln436Ter)Congenital secretory diarrhea, chloride type [RCV000049375]pathogenic|likely pathogenic7107782802107782802Human1name
8616707CV70608single nucleotide variantNM_000111.3(SLC26A3):c.1360C>T (p.Gln454Ter)Congenital secretory diarrhea, chloride type [RCV000049378]likely pathogenic7107779715107779715Human1name
8616709CV70610single nucleotide variantNM_000111.3(SLC26A3):c.1387C>T (p.Arg463Ter)Congenital secretory diarrhea, chloride type [RCV000049380]|not provided [RCV003556120]pathogenic|likely pathogenic7107779688107779688Human1name
8616710CV70611single nucleotide variantNM_000111.3(SLC26A3):c.1403A>T (p.Asp468Val)Congenital secretory diarrhea, chloride type [RCV000049381]likely pathogenic7107779672107779672Human1name
8616713CV70614single nucleotide variantNM_000111.3(SLC26A3):c.1487T>G (p.Leu496Arg)Congenital secretory diarrhea, chloride type [RCV000049384]likely pathogenic7107778202107778202Human1name
8616718CV70619single nucleotide variantNM_000111.3(SLC26A3):c.1559A>G (p.Tyr520Cys)Congenital secretory diarrhea, chloride type [RCV000049389]|not provided [RCV005089446]likely pathogenic|uncertain significance7107776662107776662Human1name
8616719CV70620single nucleotide variantNM_000111.3(SLC26A3):c.1563G>C (p.Lys521Asn)Congenital secretory diarrhea, chloride type [RCV000049390]likely pathogenic7107776658107776658Human1name
8616723CV70624single nucleotide variantNM_000111.3(SLC26A3):c.1631T>A (p.Ile544Asn)Congenital secretory diarrhea, chloride type [RCV000049394]|not provided [RCV003556122]pathogenic|likely pathogenic7107776498107776498Human1name
8616730CV70631single nucleotide variantNM_000111.3(SLC26A3):c.2132T>G (p.Leu711Ter)Congenital secretory diarrhea, chloride type [RCV000049401]likely pathogenic7107767839107767839Human1name
15124067CV710694single nucleotide variantNM_000111.3(SLC26A3):c.1802T>C (p.Ile601Thr)Congenital secretory diarrhea, chloride type [RCV001165378]|not provided [RCV000963353]benign|likely benign7107774125107774125Human1name
15201369CV722231single nucleotide variantNM_000111.3(SLC26A3):c.2169G>C (p.Lys723Asn)Congenital secretory diarrhea, chloride type [RCV001163253]|SLC26A3-related disorder [RCV003975629]|not provided [RCV000891173]likely benign7107767802107767802Human1name , trait , alternate_id
15166710CV722232single nucleotide variantNM_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 benign7107782835107782835Human2name , trait , alternate_id
21071650CV790671single nucleotide variantNM_000111.3(SLC26A3):c.1696C>T (p.Arg566Ter)Congenital secretory diarrhea, chloride type [RCV000987941]|not provided [RCV002290501]pathogenic7107774854107774854Human1name
21069603CV795950single nucleotide variantNM_000111.3(SLC26A3):c.1385G>A (p.Trp462Ter)not provided [RCV000998891]likely pathogenic7107779690107779690Humanname
28874463CV897216single nucleotide variantNM_000111.3(SLC26A3):c.2013G>C (p.Leu671Phe)Congenital secretory diarrhea, chloride type [RCV001165375]uncertain significance7107772103107772103Human1name
28874465CV897217single nucleotide variantNM_000111.3(SLC26A3):c.1916T>A (p.Ile639Asn)Congenital secretory diarrhea, chloride type [RCV001165376]uncertain significance7107774011107774011Human1name
28874469CV897218single nucleotide variantNM_000111.3(SLC26A3):c.1865C>T (p.Thr622Ile)Congenital secretory diarrhea, chloride type [RCV001165377]|not provided [RCV001859062]uncertain significance7107774062107774062Human1name
28905848CV897219single nucleotide variantNM_000111.3(SLC26A3):c.1661G>A (p.Arg554Gln)Congenital secretory diarrhea, chloride type [RCV001158651]|not provided [RCV002070955]benign7107776468107776468Human1name
28905851CV897221single nucleotide variantNM_000111.3(SLC26A3):c.1388G>A (p.Arg463Gln)Congenital secretory diarrhea, chloride type [RCV001158653]|not provided [RCV002032467]uncertain significance7107779687107779687Human1name
28867400CV897222single nucleotide variantNM_000111.3(SLC26A3):c.1232A>T (p.Gln411Leu)Congenital secretory diarrhea, chloride type [RCV001161862]uncertain significance7107782981107782981Human1name
40814191CV966710single nucleotide variantNM_000111.3(SLC26A3):c.2006C>A (p.Ser669Ter)Polyhydramnios [RCV001257348]pathogenic7107773921107773921Human2name
40814193CV966711single nucleotide variantNM_000111.3(SLC26A3):c.1000G>T (p.Glu334Ter)Polyhydramnios [RCV001257349]pathogenic7107783324107783324Human2name
8616712CV70613deletionNM_000111.3(SLC26A3):c.145_157del (p.Lys49fs)Congenital secretory diarrhea, chloride type [RCV000049383]pathogenic|likely pathogenic7107793856107793868Human1name
8616732CV70633duplicationNM_000111.3(SLC26A3):c.269_270dup (p.Gly91fs)Congenital secretory diarrhea, chloride type [RCV000049403]|Polyhydramnios [RCV001257400]|not provided [RCV003556124]pathogenic|likely pathogenic7107793742107793743Human7name
405075505CV3031612deletionNM_000111.3(SLC26A3):c.341_347del (p.Ile114fs)not provided [RCV003698573]pathogenic7107791865107791871Humanname
8600311CV31793deletionNM_000111.3(SLC26A3):c.951_953del (p.Val318del)Congenital secretory diarrhea, chloride type [RCV000018239]|not provided [RCV003556043]pathogenic7107786845107786847Human1name
8616720CV70621microsatelliteNM_000111.3(SLC26A3):c.1576TAT[1] (p.Tyr527del)Congenital secretory diarrhea, chloride type [RCV000049391]|not provided [RCV002513681]likely pathogenic|uncertain significance7107776640107776642Humanname
405248112CV2976981deletionNM_000111.3(SLC26A3):c.1740_1752del (p.Leu581fs)not provided [RCV003685819]pathogenic7107774798107774810Humanname
405018609CV2991737deletionNM_000111.3(SLC26A3):c.1718_1719del (p.Lys573fs)not provided [RCV003694505]pathogenic7107774831107774832Humanname
597701235CV3718754deletionNM_000111.3(SLC26A3):c.1533_1536del (p.Ala512fs)Congenital secretory diarrhea, chloride type [RCV005033529]likely pathogenic7107776685107776688Human1name
8616703CV70604deletionNM_000111.3(SLC26A3):c.1148_1149del (p.Ile383fs)Congenital secretory diarrhea, chloride type [RCV000049374]|not provided [RCV003556119]pathogenic|likely pathogenic7107783064107783065Human1name
8616706CV70607deletionNM_000111.3(SLC26A3):c.1342_1343del (p.Leu448fs)Congenital secretory diarrhea, chloride type [RCV000049377]likely pathogenic7107779732107779733Human1name
8616716CV70617deletionNM_000111.3(SLC26A3):c.1526_1527del (p.Ser509fs)Congenital secretory diarrhea, chloride type [RCV000049387]likely pathogenic7107776694107776695Human1name
8616717CV70618deletionNM_000111.3(SLC26A3):c.1551_1554del (p.Asn518fs)Congenital secretory diarrhea, chloride type [RCV000049388]likely pathogenic7107776667107776670Human1name
151832942CV1480669inversionNM_000111.3(SLC26A3):c.1953_1954inv (p.Asp652Asn)not provided [RCV001935240]uncertain significance7107773973107773974Humanname
402489567CV2995745duplicationNM_000111.3(SLC26A3):c.1421_1422dup (p.Thr475Ter)not provided [RCV003687401]pathogenic7107778266107778267Humanname
8616726CV70627duplicationNM_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 submitters7107772089107772090Human1name
8616722CV70623indelNM_000111.3(SLC26A3):c.1624_1626delinsC (p.Ser542fs)Congenital secretory diarrhea, chloride type [RCV000049393]likely pathogenic7107776503107776505Humanname
405030541CV2926206deletionNM_000111.3(SLC26A3):c.885del (p.Ile295_Met296insTer)not provided [RCV003578327]pathogenic7107787360107787360Humanname
405163954CV2905610indelNM_000111.3(SLC26A3):c.1743_1744delinsAT (p.Gln582Ter)not provided [RCV003562591]pathogenic7107774806107774807Humanname
8616725CV70626deletionNM_000111.3(SLC26A3):c.1990del (p.Ser663_Val664insTer)Congenital secretory diarrhea, chloride type [RCV000049396]likely pathogenic7107773937107773937Human1name
405079166CV3050303deletionNM_000111.3(SLC26A3):c.926_927del (p.Asp308_Phe309insTer)Congenital secretory diarrhea, chloride type [RCV005036966]|not provided [RCV003717001]pathogenic|likely pathogenic7107786871107786872Human1name
8600313CV31797insertionNM_000111.2(SLC26A3):c.2025_2026insATC (p.Ile675_Arg676insIle)Congenital secretory diarrhea, chloride type [RCV000018243]pathogenic7107772090107772091Humanname
8616701CV70602indelNM_000111.3(SLC26A3):c.1030_1047delinsGATGCC (p.Phe344_Val349delinsAspAla)Congenital secretory diarrhea, chloride type [RCV000049372]likely pathogenic7107783277107783294Humanname
405211002CV2867829insertionNM_000111.3(SLC26A3):c.839_840insACACTATGTTGAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAATAAATCA (p.Gln280_Arg281insHisTyrValGluTer)not provided [RCV003552543]pathogenic7107787405107787406Humanname
8616728CV70629indelNM_000111.3(SLC26A3):c.2104_2105delinsACCGGTTTTGAAGTGAAAATTCAAAATTT (p.Gly702delinsThrGlyPheGluValLysIleGlnAsnPhe)Congenital secretory diarrhea, chloride type [RCV000049399]likely pathogenic7107767866107767867Humanname