ClinVar Miner

List of variants reported as pathogenic for pachyonychia congenita 4 by OMIM

Included ClinVar conditions (1):

Pachyonychia congenita 4

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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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

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