ClinVar Miner

List of variants in gene SLC26A4 reported as pathogenic for Deafness, autosomal recessive 4, with enlarged vestibular aqueduct

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Total variants: 70
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HGVS dbSNP
NM_000441.1(SLC26A4):c.349C>T rs145254330
NM_000441.1(SLC26A4):c.[1468A>C;1489G>A]
NM_000441.1(SLC26A4):c.[349C>T];[578C>T]
NM_000441.2(SLC26A4):c.-103T>C rs60284988
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212
NM_000441.2(SLC26A4):c.109G>T (p.Glu37Ter) rs371544695
NM_000441.2(SLC26A4):c.1105A>G (p.Lys369Glu) rs121908361
NM_000441.2(SLC26A4):c.1115C>T (p.Ala372Val) rs121908364
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.1198del (p.Cys400fs) rs397516413
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>T (p.Gln421Leu) rs201660407
NM_000441.2(SLC26A4):c.1264-12T>A
NM_000441.2(SLC26A4):c.1299dup (p.Ala434fs)
NM_000441.2(SLC26A4):c.1318A>T (p.Lys440Ter) rs1562835480
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp) rs111033307
NM_000441.2(SLC26A4):c.1339A>T (p.Lys447Ter) rs1284633493
NM_000441.2(SLC26A4):c.1340del (p.Lys447fs) rs1562835515
NM_000441.2(SLC26A4):c.1458dup (p.Ile487fs) rs1584331188
NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer) rs786204601
NM_000441.2(SLC26A4):c.1540C>A (p.Gln514Lys) rs121908366
NM_000441.2(SLC26A4):c.1579A>C (p.Thr527Pro) rs1554360358
NM_000441.2(SLC26A4):c.1586T>G (p.Ile529Ser) rs786204739
NM_000441.2(SLC26A4):c.1614+1G>A rs111033312
NM_000441.2(SLC26A4):c.1615-2A>G
NM_000441.2(SLC26A4):c.1651dup (p.Ser551fs) rs1554360678
NM_000441.2(SLC26A4):c.1667A>G (p.Tyr556Cys) rs763006761
NM_000441.2(SLC26A4):c.1692dup (p.Cys565fs) rs746427774
NM_000441.2(SLC26A4):c.1707+5G>A rs192366176
NM_000441.2(SLC26A4):c.1746del (p.Ala584fs) rs1241745103
NM_000441.2(SLC26A4):c.1786C>T (p.Gln596Ter)
NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu) rs200455203
NM_000441.2(SLC26A4):c.1991C>T (p.Ala664Val)
NM_000441.2(SLC26A4):c.2000T>C (p.Phe667Ser)
NM_000441.2(SLC26A4):c.2007C>A (p.Asp669Glu) rs749013429
NM_000441.2(SLC26A4):c.2074T>C (p.Phe692Leu) rs1399914687
NM_000441.2(SLC26A4):c.2086C>T (p.Gln696Ter) rs752807925
NM_000441.2(SLC26A4):c.2089+1G>A rs727503430
NM_000441.2(SLC26A4):c.2106_2110dup (p.Glu704fs) rs1554362735
NM_000441.2(SLC26A4):c.2108T>C (p.Leu703Pro) rs1584344549
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met) rs121908363
NM_000441.2(SLC26A4):c.2167C>G (p.His723Asp)
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362
NM_000441.2(SLC26A4):c.2184_2187dup (p.Gln730fs)
NM_000441.2(SLC26A4):c.2228T>A (p.Leu743Ter) rs1057517303
NM_000441.2(SLC26A4):c.226C>T (p.Pro76Ser) rs1554352676
NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter) rs786204581
NM_000441.2(SLC26A4):c.296C>G (p.Thr99Arg) rs141142414
NM_000441.2(SLC26A4):c.2T>C (p.Met1Thr) rs111033302
NM_000441.2(SLC26A4):c.317C>A (p.Ala106Asp)
NM_000441.2(SLC26A4):c.387del (p.Phe130fs)
NM_000441.2(SLC26A4):c.415+2T>C
NM_000441.2(SLC26A4):c.439A>G (p.Met147Val) rs760413427
NM_000441.2(SLC26A4):c.589G>T (p.Gly197Ter) rs111033380
NM_000441.2(SLC26A4):c.601-1G>A rs1554355011
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val) rs111033303
NM_000441.2(SLC26A4):c.641A>G (p.Tyr214Cys) rs773861155
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848
NM_000441.2(SLC26A4):c.754T>C (p.Ser252Pro)
NM_000441.2(SLC26A4):c.82A>G (p.Ser28Gly) rs1554352234
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) rs111033205
NM_000441.2(SLC26A4):c.916dup (p.Val306fs) rs768245266
NM_000441.2(SLC26A4):c.917del (p.Val306fs) rs1584317722
NM_000441.2(SLC26A4):c.918+2T>C rs912147281
NM_000441.2(SLC26A4):c.919-2A>G rs111033313
SLC26A4, 5-BP INS, NT2111

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