ClinVar Miner

List of variants reported as pathogenic for autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature by GeneReviews

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_000422.3(KRT17):c.275A>G (p.Asn92Ser) rs59151893
NM_005554.4(KRT6A):c.510_512CAA[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

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