ClinVar Miner

List of variants in gene WHRN studied for Retinitis pigmentosa-deafness syndrome

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_015404.4(WHRN):c.1318G>A (p.Ala440Thr) rs4978584 0.19569
NM_015404.4(WHRN):c.2388C>A (p.Asn796Lys) rs2274158 0.19185
NM_015404.4(WHRN):c.1684C>G (p.Pro562Ala) rs12339210 0.09351
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg) rs45527543 0.00130
NM_015404.4(WHRN):c.*325dup rs886063369
NM_015404.4(WHRN):c.-608_-601del rs150944893

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