ClinVar Miner

List of variants in gene SLC26A4 reported as likely pathogenic by GeneDx

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Gene type:
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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00065
NM_000441.2(SLC26A4):c.340G>A (p.Gly114Arg) rs368844392 0.00008
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile) rs397516421 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.2009T>C (p.Val670Ala) rs200712253 0.00003
NM_000441.2(SLC26A4):c.1976T>C (p.Val659Ala) rs1380315814 0.00002
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr) rs111033454 0.00002
NM_000441.2(SLC26A4):c.1150-1G>A rs1791525285 0.00001
NM_000441.2(SLC26A4):c.1265T>G (p.Val422Gly) rs1057520369 0.00001
NM_000441.2(SLC26A4):c.2003T>C (p.Leu668Pro) rs727504303 0.00001
NM_000441.2(SLC26A4):c.2005G>A (p.Asp669Asn) rs777641484 0.00001
NM_000441.2(SLC26A4):c.277A>C (p.Ser93Arg) rs1318905318 0.00001
NM_000441.2(SLC26A4):c.1085C>A (p.Ala362Asp) rs1057518006
NM_000441.2(SLC26A4):c.1206G>A (p.Val402=) rs887436159
NM_000441.2(SLC26A4):c.1234G>T (p.Val412Phe) rs111033527
NM_000441.2(SLC26A4):c.1261C>A (p.Gln421Lys)
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg) rs201660407
NM_000441.2(SLC26A4):c.1264-1G>C rs111033311
NM_000441.2(SLC26A4):c.1265T>C (p.Val422Ala) rs1057520369
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del) rs111033306
NM_000441.2(SLC26A4):c.1489G>C (p.Gly497Arg) rs111033308
NM_000441.2(SLC26A4):c.1544+5G>A rs1057521147
NM_000441.2(SLC26A4):c.1595G>T (p.Ser532Ile) rs1057516243
NM_000441.2(SLC26A4):c.1655G>T (p.Ser552Ile)
NM_000441.2(SLC26A4):c.1707+2T>C rs1554360707
NM_000441.2(SLC26A4):c.1734TAA[1] (p.Asn579del) rs776068119
NM_000441.2(SLC26A4):c.1920G>C (p.Trp640Cys) rs368119540
NM_000441.2(SLC26A4):c.1991C>T (p.Ala664Val) rs2129318281
NM_000441.2(SLC26A4):c.2018T>G (p.Val673Gly) rs886061887
NM_000441.2(SLC26A4):c.2034+1G>A rs759683649
NM_000441.2(SLC26A4):c.537_538delinsC (p.Ala180fs) rs1584306754
NM_000441.2(SLC26A4):c.754T>C (p.Ser252Pro) rs1315422549
NM_000441.2(SLC26A4):c.765+1G>A
NM_000441.2(SLC26A4):c.812A>G (p.Asp271Gly) rs2129314461
NM_000441.2(SLC26A4):c.87G>T (p.Glu29Asp) rs1554352240

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