ClinVar Miner

List of variants studied for diastrophic dysplasia by Invitae

Included ClinVar conditions (2):
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Minimum conflict level:
ClinVar version:
Total variants: 54
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HGVS dbSNP
NM_000112.3(SLC26A2):c.-26+2T>C rs386833492
NM_000112.3(SLC26A2):c.1046T>A (p.Phe349Tyr) rs114212275
NM_000112.3(SLC26A2):c.1060G>T (p.Glu354Ter) rs1057517532
NM_000112.3(SLC26A2):c.1081G>A (p.Ala361Thr) rs139051143
NM_000112.3(SLC26A2):c.1194A>T (p.Val398=) rs886038240
NM_000112.3(SLC26A2):c.1234G>A (p.Val412Ile) rs201714602
NM_000112.3(SLC26A2):c.1410A>G (p.Val470=) rs115777661
NM_000112.3(SLC26A2):c.1474C>T (p.Arg492Trp) rs78676079
NM_000112.3(SLC26A2):c.1512G>A (p.Met504Ile) rs76668544
NM_000112.3(SLC26A2):c.1650del (p.Ser551fs) rs386833497
NM_000112.3(SLC26A2):c.1707C>G (p.Tyr569Ter) rs766836061
NM_000112.3(SLC26A2):c.1724del (p.Lys575fs) rs386833498
NM_000112.3(SLC26A2):c.172C>T (p.Arg58Cys) rs369318758
NM_000112.3(SLC26A2):c.1744C>T (p.Arg582Cys) rs142542254
NM_000112.3(SLC26A2):c.1761C>T (p.Leu587=) rs745590895
NM_000112.3(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924
NM_000112.3(SLC26A2):c.2046G>A (p.Leu682=) rs116657359
NM_000112.3(SLC26A2):c.2087A>G (p.Asn696Ser) rs34351171
NM_000112.3(SLC26A2):c.2144C>T (p.Ala715Val) rs104893918
NM_000112.3(SLC26A2):c.2145G>A (p.Ala715=) rs886060225
NM_000112.3(SLC26A2):c.2164T>C (p.Ser722Pro) rs565149029
NM_000112.3(SLC26A2):c.2220A>G (p.Ter740=) rs61732052
NM_000112.3(SLC26A2):c.229A>C (p.Asn77His) rs76784312
NM_000112.3(SLC26A2):c.403C>A (p.Gln135Lys) rs386833504
NM_000112.3(SLC26A2):c.438del (p.Phe146fs) rs769859976
NM_000112.3(SLC26A2):c.468C>T (p.Thr156=) rs111788154
NM_000112.3(SLC26A2):c.532C>T (p.Arg178Ter) rs104893919
NM_000112.3(SLC26A2):c.655A>G (p.Ile219Val) rs35919114
NM_000112.3(SLC26A2):c.697C>T (p.Gln233Ter) rs1429562386
NM_000112.3(SLC26A2):c.782C>G (p.Ser261Cys) rs114260147
NM_000112.3(SLC26A2):c.807C>T (p.Ala269=) rs148445106
NM_000112.3(SLC26A2):c.892C>A (p.His298Asn) rs1025069199
NM_000112.3(SLC26A2):c.987T>C (p.Leu329=) rs116302615
NM_000112.4(SLC26A2):c.1011_1013TGT[3] (p.Val341del) rs121908077
NM_000112.4(SLC26A2):c.1059T>C (p.His353=) rs114841644
NM_000112.4(SLC26A2):c.1343C>G (p.Ser448Ter)
NM_000112.4(SLC26A2):c.138dup (p.Gln47fs)
NM_000112.4(SLC26A2):c.1421del (p.Leu474fs)
NM_000112.4(SLC26A2):c.1432del (p.Leu478fs)
NM_000112.4(SLC26A2):c.15_19del (p.Ser5fs)
NM_000112.4(SLC26A2):c.1625_1650delinsAACACCA (p.Val542fs)
NM_000112.4(SLC26A2):c.1634G>A (p.Arg545His)
NM_000112.4(SLC26A2):c.1647A>G (p.Pro549=) rs200694484
NM_000112.4(SLC26A2):c.1777G>T (p.Glu593Ter)
NM_000112.4(SLC26A2):c.1878del (p.Thr627fs)
NM_000112.4(SLC26A2):c.1950del (p.Ile651fs)
NM_000112.4(SLC26A2):c.2015_2016GA[1] (p.Asp673fs)
NM_000112.4(SLC26A2):c.2037C>T (p.Ile679=) rs762132863
NM_000112.4(SLC26A2):c.438dup (p.Ala147fs) rs769859976
NM_000112.4(SLC26A2):c.474T>C (p.Arg158=) rs374572095
NM_000112.4(SLC26A2):c.483_484TG[1] (p.Val162fs) rs763198695
NM_000112.4(SLC26A2):c.705G>A (p.Ala235=) rs112360373
NM_000112.4(SLC26A2):c.819del (p.Leu275fs)
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915

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