ClinVar Miner

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

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Total variants: 9
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HGVS dbSNP
NM_000441.2(SLC26A4):c.-103T>C rs60284988
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212
NM_000441.2(SLC26A4):c.1085C>A (p.Ala362Asp) rs1057518006
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg) rs201660407
NM_000441.2(SLC26A4):c.1265T>C (p.Val422Ala) rs1057520369
NM_000441.2(SLC26A4):c.1544+5G>A rs1057521147
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile) rs397516421
NM_000441.2(SLC26A4):c.2153T>C (p.Phe718Ser) rs750834241
NM_000441.2(SLC26A4):c.537_538delinsC (p.Ala180fs) rs1584306754

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