ClinVar Miner

List of variants in gene SLC26A4 reported by GeneDx

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Gene type:
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Total variants: 58
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HGVS dbSNP
NM_000441.2(SLC26A4):c.-103T>C rs60284988
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849
NM_000441.2(SLC26A4):c.1002-9A>C rs10234822
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212
NM_000441.2(SLC26A4):c.1085C>A (p.Ala362Asp) rs1057518006
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly) rs111033244
NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr) rs201562855
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met) rs111033220
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) rs28939086
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg) rs201660407
NM_000441.2(SLC26A4):c.1265T>C (p.Val422Ala) rs1057520369
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp) rs111033307
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe) rs375576481
NM_000441.2(SLC26A4):c.1415G>A (p.Trp472Ter) rs1554359693
NM_000441.2(SLC26A4):c.1488C>T (p.Leu496=) rs77407094
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser) rs111033308
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg) rs111033316
NM_000441.2(SLC26A4):c.1544+5G>A rs1057521147
NM_000441.2(SLC26A4):c.1544+9C>T rs368970459
NM_000441.2(SLC26A4):c.1545-3T>C rs1449532089
NM_000441.2(SLC26A4):c.1545-5T>G rs77944876
NM_000441.2(SLC26A4):c.15C>A (p.Gly5=) rs7811324
NM_000441.2(SLC26A4):c.1614+1G>A rs111033312
NM_000441.2(SLC26A4):c.1614+7A>G
NM_000441.2(SLC26A4):c.1614C>T (p.Asn538=) rs111033193
NM_000441.2(SLC26A4):c.164+2T>C rs397516420
NM_000441.2(SLC26A4):c.1707+5G>A rs192366176
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile) rs397516421
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val) rs111033423
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly) rs17154335
NM_000441.2(SLC26A4):c.183C>T (p.Ala61=) rs778574810
NM_000441.2(SLC26A4):c.1957G>C (p.Val653Leu) rs1554361014
NM_000441.2(SLC26A4):c.200C>G (p.Thr67Ser) rs111033240
NM_000441.2(SLC26A4):c.2086C>T (p.Gln696Ter) rs752807925
NM_000441.2(SLC26A4):c.2089+1G>A rs727503430
NM_000441.2(SLC26A4):c.2100A>G (p.Ile700Met) rs1057520633
NM_000441.2(SLC26A4):c.2130C>T (p.Asp710=) rs17154347
NM_000441.2(SLC26A4):c.2139T>G (p.Ile713Met) rs143708308
NM_000441.2(SLC26A4):c.2153T>C (p.Phe718Ser) rs750834241
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362
NM_000441.2(SLC26A4):c.2206C>T (p.Gln736Ter) rs1057524176
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) rs17154353
NM_000441.2(SLC26A4):c.2326C>T (p.Arg776Cys) rs111033255
NM_000441.2(SLC26A4):c.301C>T (p.Gln101Ter) rs1562818685
NM_000441.2(SLC26A4):c.3G>C (p.Met1Ile) rs786204426
NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe) rs111033199
NM_000441.2(SLC26A4):c.416-16G>T rs114992866
NM_000441.2(SLC26A4):c.416-1G>A rs1057516988
NM_000441.2(SLC26A4):c.416-7T>C rs111033387
NM_000441.2(SLC26A4):c.535G>A (p.Ala179Thr) rs114473792
NM_000441.2(SLC26A4):c.565G>T (p.Ala189Ser) rs35045430
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val) rs111033303
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848
NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu) rs111033304
NM_000441.2(SLC26A4):c.919-2A>G rs111033313
NM_000441.2(SLC26A4):c.946G>T (p.Gly316Ter) rs1554357231

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