List of variants in gene KRT6A reported as likely pathogenic for Pachyonychia congenita 3

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_005554.4(KRT6A):c.1381G>A (p.Glu461Lys)	rs267607468
NM_005554.4(KRT6A):c.1381G>T (p.Glu461Ter)	rs267607468
NM_005554.4(KRT6A):c.1382A>G (p.Glu461Gly)
NM_005554.4(KRT6A):c.1388C>T (p.Ala463Val)
NM_005554.4(KRT6A):c.1414G>A (p.Glu472Lys)	rs60554162
NM_005554.4(KRT6A):c.1460-1G>C
NM_005554.4(KRT6A):c.1460-2A>C	rs113369052
NM_005554.4(KRT6A):c.500T>A (p.Ile167Asn)	rs57126929
NM_005554.4(KRT6A):c.520T>A (p.Phe174Ile)
NM_005554.4(KRT6A):c.817-2A>G	rs2498491241

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