ClinVar Miner

List of variants reported as pathogenic for Pachyonychia congenita 4

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_005555.4(KRT6B):c.1495G>A (p.Gly499Ser) rs61746355 0.02504
NM_005555.4(KRT6B):c.1406T>G (p.Leu469Arg) rs1592169234
NM_005555.4(KRT6B):c.1414G>A (p.Glu472Lys) rs60627726
NM_005555.4(KRT6B):c.510CAA[2] (p.Asn172del) rs267607472

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