ClinVar Miner

List of variants studied for Pachyonychia congenita 3

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_005554.4(KRT6A):c.483T>C (p.Ala161=) rs711317 0.46623
NM_005554.4(KRT6A):c.495A>G (p.Glu165=) rs376545 0.34829
NM_005554.4(KRT6A):c.1424+18A>C rs12581781 0.31486
NM_005554.4(KRT6A):c.819T>C (p.Asp273=) rs12578949 0.30252
NM_005554.4(KRT6A):c.62A>G (p.Asn21Ser) rs17845411 0.29042
NM_005554.4(KRT6A):c.1203+13A>G rs56654203 0.02469
NM_005554.4(KRT6A):c.1078-10T>C rs1938231658
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.1529G>T (p.Gly510Val) rs1195451609
NM_005554.4(KRT6A):c.1650G>T (p.Lys550Asn)
NM_005554.4(KRT6A):c.510CAA[2] (p.Asn172del) rs606231214
NM_005554.4(KRT6A):c.511A>G (p.Asn171Asp) rs62635294
NM_005554.4(KRT6A):c.511A>T (p.Asn171Tyr) rs62635294
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
NM_005554.4(KRT6A):c.817-2A>G

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