ClinVar Miner

List of variants studied for Pachyonychia congenita 3 by GeneReviews

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
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

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