ClinVar Miner

List of variants in gene SLC26A4 reported by ClinGen Hearing Loss Variant Curation Expert Panel,

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Total variants: 11
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HGVS dbSNP
NM_000441.1(SLC26A4):c.349C>T rs145254330
NM_000441.2(SLC26A4):c.-103T>C rs60284988
NM_000441.2(SLC26A4):c.1069G>A (p.Ala357Thr) rs145467740
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met) rs111033220
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe) rs375576481
NM_000441.2(SLC26A4):c.2291C>T (p.Thr764Met) rs150597240
NM_000441.2(SLC26A4):c.365dup (p.Ile124fs) rs786204730
NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe) rs111033199
NM_000441.2(SLC26A4):c.565G>T (p.Ala189Ser) rs35045430
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) rs111033242
NM_000441.2(SLC26A4):c.919-2A>G rs111033313

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