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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