| 156348081 | CV1868550 | single nucleotide variant | NM_052832.4(SLC26A7):c.1026+1G>A | not provided [RCV003064633] | likely pathogenic | 8 | 91340552 | 91340552 | Human | | name |
| 401887585 | CV2772029 | single nucleotide variant | NM_052832.4(SLC26A7):c.1935+197T>C | Inborn genetic diseases [RCV003352467] | uncertain significance | 8 | 91394236 | 91394236 | Human | 1 | name |
| 156108661 | CV2355419 | single nucleotide variant | NM_052832.4(SLC26A7):c.71T>C (p.Ile24Thr) | Inborn genetic diseases [RCV002980451] | uncertain significance | 8 | 91249722 | 91249722 | Human | 1 | name |
| 329378052 | CV2459098 | single nucleotide variant | NM_052832.4(SLC26A7):c.32T>C (p.Met11Thr) | Inborn genetic diseases [RCV003212073] | uncertain significance | 8 | 91249683 | 91249683 | Human | 1 | name |
| 407451334 | CV3474096 | single nucleotide variant | NM_052832.4(SLC26A7):c.92G>A (p.Arg31Gln) | Inborn genetic diseases [RCV004683632] | uncertain significance | 8 | 91249743 | 91249743 | Human | 1 | name |
| 597639785 | CV3606529 | single nucleotide variant | NM_052832.4(SLC26A7):c.62G>A (p.Cys21Tyr) | Inborn genetic diseases [RCV004971311] | uncertain significance | 8 | 91249713 | 91249713 | Human | 1 | name |
| 597639811 | CV3606537 | single nucleotide variant | NM_052832.4(SLC26A7):c.75A>G (p.Ile25Met) | Inborn genetic diseases [RCV004971318] | uncertain significance | 8 | 91249726 | 91249726 | Human | 1 | name |
| 155978371 | CV2222675 | single nucleotide variant | NM_052832.4(SLC26A7):c.172G>A (p.Ala58Thr) | Inborn genetic diseases [RCV002732241] | uncertain significance | 8 | 91249823 | 91249823 | Human | 1 | name |
| 329401646 | CV2457266 | single nucleotide variant | NM_052832.4(SLC26A7):c.289C>T (p.His97Tyr) | Inborn genetic diseases [RCV003198682] | uncertain significance | 8 | 91289231 | 91289231 | Human | 1 | name |
| 405769293 | CV3321877 | single nucleotide variant | NM_052832.4(SLC26A7):c.200C>T (p.Ala67Val) | Inborn genetic diseases [RCV004456696] | uncertain significance | 8 | 91289142 | 91289142 | Human | 1 | name |
| 405769300 | CV3321878 | single nucleotide variant | NM_052832.4(SLC26A7):c.257C>T (p.Pro86Leu) | Inborn genetic diseases [RCV004456697] | uncertain significance | 8 | 91289199 | 91289199 | Human | 1 | name |
| 598200471 | CV3918340 | single nucleotide variant | NM_052832.4(SLC26A7):c.254T>C (p.Phe85Ser) | Inborn genetic diseases [RCV005268547] | uncertain significance | 8 | 91289196 | 91289196 | Human | 1 | name |
| 151351204 | CV1321123 | single nucleotide variant | NM_052832.4(SLC26A7):c.299C>T (p.Ala100Val) | not provided [RCV001810784] | uncertain significance | 8 | 91289241 | 91289241 | Human | | name |
| 156140294 | CV1898486 | duplication | NM_052832.4(SLC26A7):c.1554dup (p.Phe519fs) | not provided [RCV003082176] | pathogenic | 8 | 91366638 | 91366639 | Human | | name |
| 155980182 | CV2243922 | single nucleotide variant | NM_052832.4(SLC26A7):c.824G>T (p.Cys275Phe) | Inborn genetic diseases [RCV002777638] | uncertain significance | 8 | 91338178 | 91338178 | Human | 1 | name |
| 156116224 | CV2349361 | single nucleotide variant | NM_052832.4(SLC26A7):c.399C>A (p.Ser133Arg) | Inborn genetic diseases [RCV002980930] | uncertain significance | 8 | 91295625 | 91295625 | Human | 1 | name |
| 155981599 | CV2351379 | single nucleotide variant | NM_052832.4(SLC26A7):c.562A>G (p.Thr188Ala) | Inborn genetic diseases [RCV002946721] | uncertain significance | 8 | 91318300 | 91318300 | Human | 1 | name |
| 156186516 | CV2377981 | single nucleotide variant | NM_052832.4(SLC26A7):c.766A>G (p.Lys256Glu) | Inborn genetic diseases [RCV002699695] | uncertain significance | 8 | 91334418 | 91334418 | Human | 1 | name |
| 155939355 | CV2385611 | single nucleotide variant | NM_052832.4(SLC26A7):c.704T>C (p.Leu235Ser) | Inborn genetic diseases [RCV002729954] | uncertain significance | 8 | 91334356 | 91334356 | Human | 1 | name |
| 329373810 | CV2452679 | single nucleotide variant | NM_052832.4(SLC26A7):c.700T>A (p.Ser234Thr) | Inborn genetic diseases [RCV003210606] | uncertain significance | 8 | 91334352 | 91334352 | Human | 1 | name |
| 329847562 | CV2543864 | single nucleotide variant | NM_052832.4(SLC26A7):c.809C>A (p.Ser270Ter) | Hyperoxaluria [RCV003228827] | uncertain significance | 8 | 91338163 | 91338163 | Human | 2 | name |
| 401762196 | CV2699553 | single nucleotide variant | NM_052832.4(SLC26A7):c.920C>T (p.Ala307Val) | Inborn genetic diseases [RCV003281115] | uncertain significance | 8 | 91340445 | 91340445 | Human | 1 | name |
| 405295171 | CV3211117 | single nucleotide variant | NM_052832.4(SLC26A7):c.512C>T (p.Thr171Ile) | SLC26A7-related disorder [RCV003937112] | likely benign | 8 | 91318250 | 91318250 | Human | | name , trait , alternate_id |
| 405769308 | CV3321879 | single nucleotide variant | NM_052832.4(SLC26A7):c.387G>T (p.Gln129His) | Inborn genetic diseases [RCV004456698] | uncertain significance | 8 | 91295613 | 91295613 | Human | 1 | name |
| 405769320 | CV3321881 | single nucleotide variant | NM_052832.4(SLC26A7):c.413C>T (p.Ser138Phe) | Inborn genetic diseases [RCV004456700] | uncertain significance | 8 | 91295639 | 91295639 | Human | 1 | name |
| 405769327 | CV3321882 | single nucleotide variant | NM_052832.4(SLC26A7):c.625C>T (p.Pro209Ser) | Inborn genetic diseases [RCV004456701] | uncertain significance | 8 | 91318363 | 91318363 | Human | 1 | name |
| 405769335 | CV3321883 | single nucleotide variant | NM_052832.4(SLC26A7):c.713T>C (p.Ile238Thr) | Inborn genetic diseases [RCV004456702] | uncertain significance | 8 | 91334365 | 91334365 | Human | 1 | name |
| 405769341 | CV3321884 | single nucleotide variant | NM_052832.4(SLC26A7):c.829A>C (p.Asn277His) | Inborn genetic diseases [RCV004456703] | uncertain significance | 8 | 91338183 | 91338183 | Human | 1 | name |
| 405769348 | CV3321885 | single nucleotide variant | NM_052832.4(SLC26A7):c.884C>T (p.Pro295Leu) | Inborn genetic diseases [RCV004456704] | uncertain significance | 8 | 91340409 | 91340409 | Human | 1 | name |
| 407451331 | CV3474094 | single nucleotide variant | NM_052832.4(SLC26A7):c.680G>A (p.Arg227Gln) | Inborn genetic diseases [RCV004683631] | likely benign | 8 | 91334332 | 91334332 | Human | 1 | name |
| 597639789 | CV3606530 | single nucleotide variant | NM_052832.4(SLC26A7):c.833T>C (p.Met278Thr) | Inborn genetic diseases [RCV004971312] | uncertain significance | 8 | 91338187 | 91338187 | Human | 1 | name |
| 597639795 | CV3606533 | single nucleotide variant | NM_052832.4(SLC26A7):c.535A>G (p.Ile179Val) | Inborn genetic diseases [RCV004971314] | uncertain significance | 8 | 91318273 | 91318273 | Human | 1 | name |
| 597639806 | CV3606536 | single nucleotide variant | NM_052832.4(SLC26A7):c.475C>G (p.Gln159Glu) | Inborn genetic diseases [RCV004971317] | uncertain significance | 8 | 91295701 | 91295701 | Human | 1 | name |
| 597639815 | CV3606538 | single nucleotide variant | NM_052832.4(SLC26A7):c.902C>G (p.Pro301Arg) | Inborn genetic diseases [RCV004971319] | uncertain significance | 8 | 91340427 | 91340427 | Human | 1 | name |
| 598208984 | CV3894821 | single nucleotide variant | NM_052832.4(SLC26A7):c.974C>A (p.Ala325Asp) | Congenital hypothyroidism [RCV005358297] | likely pathogenic | 8 | 91340499 | 91340499 | Human | 2 | name |
| 598169422 | CV3918341 | single nucleotide variant | NM_052832.4(SLC26A7):c.608T>C (p.Met203Thr) | Inborn genetic diseases [RCV005284271] | uncertain significance | 8 | 91318346 | 91318346 | Human | 1 | name |
| 598169425 | CV3918342 | single nucleotide variant | NM_052832.4(SLC26A7):c.400G>A (p.Val134Met) | Inborn genetic diseases [RCV005284272] | uncertain significance | 8 | 91295626 | 91295626 | Human | 1 | name |
| 598169436 | CV3918345 | single nucleotide variant | NM_052832.4(SLC26A7):c.597G>T (p.Leu199Phe) | Inborn genetic diseases [RCV005284275] | uncertain significance | 8 | 91318335 | 91318335 | Human | 1 | name |
| 15162677 | CV736763 | microsatellite | NM_052832.4(SLC26A7):c.1935+196_1935+198del | not provided [RCV000903603] | likely benign | 8 | 91394231 | 91394233 | Human | | name |
| 8633139 | CV88352 | single nucleotide variant | NM_134266.1(SLC26A7):c.871C>T (p.Pro291Ser) | Malignant melanoma [RCV000068444] | not provided | 8 | 91338225 | 91338225 | Human | | name |
| 156099524 | CV2250683 | single nucleotide variant | NM_052832.4(SLC26A7):c.1391C>T (p.Thr464Ile) | Inborn genetic diseases [RCV002799033] | uncertain significance | 8 | 91362429 | 91362429 | Human | 1 | name |
| 156202061 | CV2256209 | single nucleotide variant | NM_052832.4(SLC26A7):c.1325T>C (p.Val442Ala) | Inborn genetic diseases [RCV002803517] | uncertain significance | 8 | 91362363 | 91362363 | Human | 1 | name |
| 156171741 | CV2326733 | single nucleotide variant | NM_052832.4(SLC26A7):c.1932T>A (p.Asn644Lys) | Inborn genetic diseases [RCV002929875] | uncertain significance | 8 | 91394036 | 91394036 | Human | 1 | name |
| 156062068 | CV2351378 | single nucleotide variant | NM_052832.4(SLC26A7):c.1343C>T (p.Thr448Ile) | Inborn genetic diseases [RCV002978418] | uncertain significance | 8 | 91362381 | 91362381 | Human | 1 | name |
| 156276259 | CV2351918 | single nucleotide variant | NM_052832.4(SLC26A7):c.1510A>C (p.Ile504Leu) | Inborn genetic diseases [RCV002989095] | uncertain significance | 8 | 91366601 | 91366601 | Human | 1 | name |
| 329372050 | CV2442867 | single nucleotide variant | NM_052832.4(SLC26A7):c.1730G>C (p.Ser577Thr) | Inborn genetic diseases [RCV003184625] | uncertain significance | 8 | 91389392 | 91389392 | Human | 1 | name |
| 401729951 | CV2683873 | single nucleotide variant | NM_052832.4(SLC26A7):c.1168G>A (p.Val390Ile) | Inborn genetic diseases [RCV003248001] | uncertain significance | 8 | 91351837 | 91351837 | Human | 1 | name |
| 401779002 | CV2702009 | single nucleotide variant | NM_052832.4(SLC26A7):c.1765A>G (p.Met589Val) | Inborn genetic diseases [RCV003287352] | uncertain significance | 8 | 91389427 | 91389427 | Human | 1 | name |
| 401771892 | CV2722982 | single nucleotide variant | NM_052832.4(SLC26A7):c.1672A>C (p.Asn558His) | Inborn genetic diseases [RCV003304498] | uncertain significance | 8 | 91369830 | 91369830 | Human | 1 | name |
| 401897521 | CV2787127 | single nucleotide variant | NM_052832.4(SLC26A7):c.1281A>C (p.Leu427Phe) | Inborn genetic diseases [RCV003375168] | uncertain significance | 8 | 91352963 | 91352963 | Human | 1 | name |
| 407509650 | CV3474095 | single nucleotide variant | NM_052832.4(SLC26A7):c.1808A>T (p.Asp603Val) | Inborn genetic diseases [RCV004672400] | uncertain significance | 8 | 91393828 | 91393828 | Human | 1 | name |
| 597639783 | CV3606528 | single nucleotide variant | NM_052832.4(SLC26A7):c.1199T>G (p.Leu400Trp) | Inborn genetic diseases [RCV004971310] | uncertain significance | 8 | 91351868 | 91351868 | Human | 1 | name |
| 597639791 | CV3606531 | single nucleotide variant | NM_052832.4(SLC26A7):c.1106C>T (p.Thr369Met) | Inborn genetic diseases [RCV004971313] | uncertain significance | 8 | 91343432 | 91343432 | Human | 1 | name |
| 597639798 | CV3606534 | single nucleotide variant | NM_052832.4(SLC26A7):c.1135A>G (p.Thr379Ala) | Inborn genetic diseases [RCV004971315] | uncertain significance | 8 | 91343461 | 91343461 | Human | 1 | name |
| 597639802 | CV3606535 | single nucleotide variant | NM_052832.4(SLC26A7):c.1856A>G (p.Tyr619Cys) | Inborn genetic diseases [RCV004971316] | uncertain significance | 8 | 91393960 | 91393960 | Human | 1 | name |
| 597639819 | CV3606539 | single nucleotide variant | NM_052832.4(SLC26A7):c.1493C>A (p.Thr498Asn) | Inborn genetic diseases [RCV004971320] | uncertain significance | 8 | 91366584 | 91366584 | Human | 1 | name |
| 598169418 | CV3918339 | single nucleotide variant | NM_052832.4(SLC26A7):c.1525A>C (p.Asn509His) | Inborn genetic diseases [RCV005284270] | uncertain significance | 8 | 91366616 | 91366616 | Human | 1 | name |
| 598169428 | CV3918343 | single nucleotide variant | NM_052832.4(SLC26A7):c.1155A>G (p.Ile385Met) | Inborn genetic diseases [RCV005284273] | uncertain significance | 8 | 91351824 | 91351824 | Human | 1 | name |
| 598169432 | CV3918344 | single nucleotide variant | NM_052832.4(SLC26A7):c.1098G>A (p.Met366Ile) | Inborn genetic diseases [RCV005284274] | uncertain significance | 8 | 91343424 | 91343424 | Human | 1 | name |
| 15173104 | CV700682 | single nucleotide variant | NM_052832.4(SLC26A7):c.1045C>T (p.Leu349Phe) | not provided [RCV000950169] | benign | 8 | 91343371 | 91343371 | Human | | name |
| 15192014 | CV700683 | single nucleotide variant | NM_052832.4(SLC26A7):c.1363G>A (p.Val455Met) | not provided [RCV000954944] | benign|likely benign | 8 | 91362401 | 91362401 | Human | | name |
| 21069806 | CV796195 | single nucleotide variant | NM_052832.4(SLC26A7):c.1247G>C (p.Gly416Ala) | not provided [RCV000999053] | uncertain significance | 8 | 91352929 | 91352929 | Human | | name |
| 25319072 | CV816512 | single nucleotide variant | NM_052832.4(SLC26A7):c.1498C>T (p.Gln500Ter) | Congenital hypothyroidism [RCV001028069] | likely pathogenic | 8 | 91366589 | 91366589 | Human | 2 | name |
