ClinVar Miner

List of variants studied for Palmoplantar keratoderma, nonepidermolytic, focal or diffuse by Genome-Nilou Lab

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_173086.5(KRT6C):c.1257A>C (p.Ala419=) rs382367 0.49934
NM_173086.5(KRT6C):c.545G>A (p.Arg182Gln) rs11608915 0.42532
NM_173086.5(KRT6C):c.1503C>T (p.Ser501=) rs410562 0.31967
NM_173086.5(KRT6C):c.180T>C (p.Ser60=) rs556681459 0.30700
NM_173086.5(KRT6C):c.198C>A (p.Gly66=) rs419374 0.29920
NM_173086.5(KRT6C):c.417C>T (p.Thr139=) rs1053684 0.29042
NM_173086.5(KRT6C):c.816+13A>G rs7487256 0.27989
NM_173086.5(KRT6C):c.755+13T>C rs10876294 0.26616
NM_173086.5(KRT6C):c.1441G>A (p.Val481Ile) rs412533 0.26256
NM_173086.5(KRT6C):c.183G>A (p.Leu61=) rs2885799 0.25049
NM_173086.5(KRT6C):c.1460-10C>A rs35481773 0.23584
NM_173086.5(KRT6C):c.1314G>A (p.Lys438=) rs3894847 0.23563
NM_173086.5(KRT6C):c.181C>T (p.Leu61=) rs201833096
NM_173086.5(KRT6C):c.428G>A (p.Ser143Asn) rs151117600
NM_173086.5(KRT6C):c.687C>G (p.Val229=) rs425073

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