ClinVar Miner

List of variants in gene KRT5 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000424.4(KRT5):c.322G>A (p.Gly108Ser) rs146022149 0.00033
NM_000424.4(KRT5):c.424G>A (p.Glu142Lys) rs776798169 0.00001
NM_000424.4(KRT5):c.86G>A (p.Arg29His) rs543574061 0.00001
NM_000424.4(KRT5):c.1061G>C (p.Arg354Pro) rs148049379
NM_000424.4(KRT5):c.109C>T (p.Arg37Trp)
NM_000424.4(KRT5):c.134del (p.Gly45fs)
NM_000424.4(KRT5):c.1474+1G>T
NM_000424.4(KRT5):c.1474+2dup
NM_000424.4(KRT5):c.1561G>T (p.Gly521Cys)
NM_000424.4(KRT5):c.1576G>A (p.Gly526Arg)
NM_000424.4(KRT5):c.1580G>A (p.Gly527Asp)
NM_000424.4(KRT5):c.1607G>A (p.Ser536Asn)
NM_000424.4(KRT5):c.160G>A (p.Ala54Thr)
NM_000424.4(KRT5):c.1612G>A (p.Gly538Arg)
NM_000424.4(KRT5):c.1682dup (p.Val563fs) rs2120467956
NM_000424.4(KRT5):c.205G>C (p.Gly69Arg)
NM_000424.4(KRT5):c.256C>T (p.Arg86Trp)
NM_000424.4(KRT5):c.301G>A (p.Ala101Thr)
NM_000424.4(KRT5):c.358G>A (p.Gly120Arg)
NM_000424.4(KRT5):c.43C>G (p.Arg15Gly) rs374322915
NM_000424.4(KRT5):c.506G>A (p.Arg169His)
NM_000424.4(KRT5):c.539CCT[1] (p.Ser181del)
NM_000424.4(KRT5):c.902A>T (p.Asn301Ile)
NM_000424.4(KRT5):c.947C>T (p.Thr316Met)

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