ClinVar Miner

List of variants in gene SLC26A4 reported by University of Washington Center for Mendelian Genomics, University of Washington

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Total variants: 17
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HGVS dbSNP
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) rs146281367
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) rs397516413
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305
NM_000441.2(SLC26A4):c.1226G>C (p.Arg409Pro) rs111033305
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met) rs111033220
NM_000441.2(SLC26A4):c.1238A>G (p.Gln413Arg) rs142498437
NM_000441.2(SLC26A4):c.1264-3C>G rs1562835391
NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg) rs768471577
NM_000441.2(SLC26A4):c.154A>T (p.Lys52Ter) rs1562817529
NM_000441.2(SLC26A4):c.2106del (p.Lys702fs)
NM_000441.2(SLC26A4):c.317C>T (p.Ala106Val) rs1562822565
NM_000441.2(SLC26A4):c.413T>A (p.Val138Asp)
NM_000441.2(SLC26A4):c.416G>T (p.Gly139Val)
NM_000441.2(SLC26A4):c.42del (p.Glu15fs) rs1562817224
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000441.2(SLC26A4):c.71G>T (p.Arg24Leu)
NM_000441.2(SLC26A4):c.919-2A>G rs111033313

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