ClinVar Miner

List of variants in gene SLC26A4 reported as likely pathogenic by Baylor Genetics

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Gene type:
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Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) rs145254330 0.00017
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile) rs397516421 0.00006
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) rs111033242 0.00005
NM_000441.2(SLC26A4):c.1673A>G (p.Asn558Ser) rs766206507 0.00004
NM_000441.2(SLC26A4):c.1589A>C (p.Tyr530Ser) rs747636919 0.00003
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr) rs542620119 0.00003
NM_000441.2(SLC26A4):c.1667A>G (p.Tyr556Cys) rs763006761 0.00002
NM_000441.2(SLC26A4):c.1231G>C (p.Ala411Pro) rs1293971731 0.00001
NM_000441.2(SLC26A4):c.1708-1G>A rs759414956 0.00001
NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val) rs397516424 0.00001
NM_000441.2(SLC26A4):c.2005G>A (p.Asp669Asn) rs777641484 0.00001
NM_000441.2(SLC26A4):c.2007C>A (p.Asp669Glu) rs749013429 0.00001
NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser) rs1060499808 0.00001
NM_000441.2(SLC26A4):c.2319+1G>A rs542079779 0.00001
NM_000441.2(SLC26A4):c.2320-2A>G rs1275029034 0.00001
NM_000441.2(SLC26A4):c.563T>C (p.Ile188Thr) rs1205712508 0.00001
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr) rs111033454 0.00001
NM_000441.2(SLC26A4):c.1001+4A>G rs1262298247
NM_000441.2(SLC26A4):c.1002-2A>G
NM_000441.2(SLC26A4):c.1002-4C>G rs2129315781
NM_000441.2(SLC26A4):c.1002del
NM_000441.2(SLC26A4):c.1003T>G (p.Phe335Val) rs111033212
NM_000441.2(SLC26A4):c.1150-1G>T rs1791525285
NM_000441.2(SLC26A4):c.1160C>T (p.Ala387Val) rs777333979
NM_000441.2(SLC26A4):c.1172G>A (p.Ser391Asn)
NM_000441.2(SLC26A4):c.1204G>A (p.Val402Met) rs397516414
NM_000441.2(SLC26A4):c.1216_1218delinsC (p.Ala406fs)
NM_000441.2(SLC26A4):c.1226G>C (p.Arg409Pro) rs111033305
NM_000441.2(SLC26A4):c.1226G>T (p.Arg409Leu)
NM_000441.2(SLC26A4):c.1261C>T (p.Gln421Ter)
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg) rs201660407
NM_000441.2(SLC26A4):c.1263+1G>T rs1057517000
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del) rs111033306
NM_000441.2(SLC26A4):c.130delinsTTG (p.Lys44fs) rs1584292992
NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg) rs768471577
NM_000441.2(SLC26A4):c.1343_1355dup (p.Val453fs) rs1791686622
NM_000441.2(SLC26A4):c.1370A>T (p.Asn457Ile)
NM_000441.2(SLC26A4):c.1377del (p.Met461fs)
NM_000441.2(SLC26A4):c.1449del (p.Phe484fs)
NM_000441.2(SLC26A4):c.1549del (p.Ser517fs)
NM_000441.2(SLC26A4):c.1595G>T (p.Ser532Ile) rs1057516243
NM_000441.2(SLC26A4):c.1614+1del
NM_000441.2(SLC26A4):c.1615-1G>T
NM_000441.2(SLC26A4):c.1615A>G (p.Ile539Val)
NM_000441.2(SLC26A4):c.1629del (p.Gly544fs)
NM_000441.2(SLC26A4):c.1673del (p.Asn558fs)
NM_000441.2(SLC26A4):c.1707+2T>C rs1554360707
NM_000441.2(SLC26A4):c.1707+4_1707+7del
NM_000441.2(SLC26A4):c.1708-1G>T rs759414956
NM_000441.2(SLC26A4):c.1717G>T (p.Asp573Tyr)
NM_000441.2(SLC26A4):c.1803G>A (p.Lys601=)
NM_000441.2(SLC26A4):c.1876G>T (p.Glu626Ter)
NM_000441.2(SLC26A4):c.1905_1906del (p.Glu635fs)
NM_000441.2(SLC26A4):c.1922del (p.Asn641fs) rs1584337134
NM_000441.2(SLC26A4):c.1991C>T (p.Ala664Val) rs2129318281
NM_000441.2(SLC26A4):c.2026del (p.Leu676fs) rs2129318299
NM_000441.2(SLC26A4):c.2035-2A>C
NM_000441.2(SLC26A4):c.2035-2A>G
NM_000441.2(SLC26A4):c.203T>C (p.Leu68Pro)
NM_000441.2(SLC26A4):c.2049_2058del (p.Phe683fs)
NM_000441.2(SLC26A4):c.2089+1G>T
NM_000441.2(SLC26A4):c.2215dup (p.Gln739fs)
NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val) rs111033310
NM_000441.2(SLC26A4):c.222G>A (p.Trp74Ter)
NM_000441.2(SLC26A4):c.2248C>T (p.Gln750Ter)
NM_000441.2(SLC26A4):c.269C>T (p.Ser90Leu) rs370588279
NM_000441.2(SLC26A4):c.284G>A (p.Gly95Glu) rs2129309208
NM_000441.2(SLC26A4):c.304G>A (p.Gly102Arg) rs1219724284
NM_000441.2(SLC26A4):c.338del (p.Val113fs)
NM_000441.2(SLC26A4):c.367C>T (p.Pro123Ser) rs984967571
NM_000441.2(SLC26A4):c.412G>C (p.Val138Leu) rs111033199
NM_000441.2(SLC26A4):c.412_415+21delinsTGACA
NM_000441.2(SLC26A4):c.416G>C (p.Gly139Ala) rs756272252
NM_000441.2(SLC26A4):c.416G>T (p.Gly139Val) rs756272252
NM_000441.2(SLC26A4):c.518dup (p.Thr174fs)
NM_000441.2(SLC26A4):c.587T>A (p.Val196Asp)
NM_000441.2(SLC26A4):c.598C>T (p.Gln200Ter)
NM_000441.2(SLC26A4):c.642del (p.Leu215fs)
NM_000441.2(SLC26A4):c.701C>A (p.Ser234Ter)
NM_000441.2(SLC26A4):c.745_749dup (p.Leu251fs) rs750365180
NM_000441.2(SLC26A4):c.839del (p.Val280fs)

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