ClinVar Miner

List of variants reported as benign for Pachyonychia congenita 3

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_005554.4(KRT6A):c.483T>C (p.Ala161=) rs711317 0.47156
NM_005554.4(KRT6A):c.495A>G (p.Glu165=) rs376545 0.34829
NM_005554.4(KRT6A):c.1424+18A>C rs12581781 0.30931
NM_005554.4(KRT6A):c.819T>C (p.Asp273=) rs12578949 0.29765
NM_005554.4(KRT6A):c.62A>G (p.Asn21Ser) rs17845411 0.28652
NM_005554.4(KRT6A):c.1031T>C (p.Ile344Thr)

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