ClinVar Miner

List of variants in gene SLC26A4 reported as likely pathogenic by ClinGen Hearing Loss Variant Curation Expert Panel

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Gene type:
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Total variants: 7
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NM_000441.1(SLC26A4):c.349C>T rs145254330
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg) rs201660407
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile) rs397516421
NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val) rs397516424
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr) rs542620119
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) rs111033242
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr) rs111033454

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