ClinVar Miner

List of variants in gene KRT5 reported by PreventionGenetics, part of Exact Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000424.4(KRT5):c.555+9C>T rs638907 0.18403
NM_000424.4(KRT5):c.1582A>G (p.Ser528Gly) rs11549950 0.17563
NM_000424.4(KRT5):c.1065A>C (p.Thr355=) rs4761924 0.15330
NM_000424.4(KRT5):c.1627G>A (p.Gly543Ser) rs11549949 0.15185
NM_000424.4(KRT5):c.351C>T (p.Leu117=) rs11549951 0.07903
NM_000424.4(KRT5):c.413G>A (p.Gly138Glu) rs11170164 0.05271
NM_000424.4(KRT5):c.142A>C (p.Arg48=) rs61747180 0.01877
NM_000424.4(KRT5):c.259T>G (p.Phe87Val) rs61747188 0.01764
NM_000424.4(KRT5):c.156G>A (p.Ala52=) rs74093478 0.01559
NM_000424.4(KRT5):c.30G>A (p.Arg10=) rs61747182 0.00780
NM_000424.4(KRT5):c.1071C>T (p.Ala357=) rs149467228 0.00503
NM_000424.4(KRT5):c.1636C>A (p.Leu546Ile) rs114734812 0.00394
NM_000424.4(KRT5):c.39C>T (p.Gly13=) rs116931869 0.00042
NM_000424.4(KRT5):c.322G>A (p.Gly108Ser) rs146022149 0.00033
NM_000424.4(KRT5):c.1440-6T>C rs374119094 0.00020
NM_000424.4(KRT5):c.1675C>T (p.Arg559Ter) rs754242209 0.00009
NM_000424.4(KRT5):c.508G>A (p.Glu170Lys) rs59115483 0.00001
NM_000424.4(KRT5):c.1649del (p.Gly550fs) rs61126080
NM_000424.4(KRT5):c.1754G>A (p.Arg585Gln)
NM_000424.4(KRT5):c.434T>G (p.Val145Gly)
NM_000424.4(KRT5):c.482T>G (p.Ile161Ser) rs58058996
NM_000424.4(KRT5):c.74C>T (p.Pro25Leu) rs57499817
NM_000424.4(KRT5):c.974T>C (p.Leu325Pro) rs58107458
NM_000424.4(KRT5):c.980T>C (p.Met327Thr) rs58072617
NM_000424.4(KRT5):c.992G>A (p.Arg331His) rs56729325

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