ClinVar Miner

List of variants in gene SLC26A4 reported as likely pathogenic by Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital

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Gene type:
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Total variants: 15
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NM_000441.1(SLC26A4):c.578C>T rs111033348
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val) rs786204474
NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr) rs201562855
NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys) rs147952620
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.1262A>C (p.Gln421Pro) rs201660407
NM_000441.2(SLC26A4):c.1343C>G (p.Ser448Trp) rs747076316
NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu) rs200455203
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln) rs111033318
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met) rs121908363
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362
NM_000441.2(SLC26A4):c.281C>T (p.Thr94Ile) rs1057516953
NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg) rs111033380
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) rs111033205

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