ClinVar Miner

List of variants reported as pathogenic for Pachyonychia congenita 3 by OMIM

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_005554.4(KRT6A):c.1381G>T (p.Glu461Ter) rs267607468
NM_005554.4(KRT6A):c.1406T>C (p.Leu469Pro) rs57052654
NM_005554.4(KRT6A):c.1406T>G (p.Leu469Arg) rs57052654
NM_005554.4(KRT6A):c.1414G>A (p.Glu472Lys) rs60554162
NM_005554.4(KRT6A):c.1460-2A>C rs113369052
NM_005554.4(KRT6A):c.510CAA[2] (p.Asn172del) rs606231214
NM_005554.4(KRT6A):c.512A>G (p.Asn171Ser) rs58556099
NM_005554.4(KRT6A):c.513C>A (p.Asn171Lys) rs59685571
NM_005554.4(KRT6A):c.520T>G (p.Phe174Val) rs28933087
NM_005554.4(KRT6A):c.521T>C (p.Phe174Ser) rs61145796

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