ClinVar Miner

List of variants in gene KRT5 reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000424.4(KRT5):c.472G>A (p.Asp158Asn) rs763608512 0.00001
NM_000424.4(KRT5):c.508G>A (p.Glu170Lys) rs59115483 0.00001
NM_000424.4(KRT5):c.1440-1G>A rs2120471876
NM_000424.4(KRT5):c.14C>A (p.Ser5Ter) rs58751565
NM_000424.4(KRT5):c.1635del (p.Leu546fs) rs57187183
NM_000424.4(KRT5):c.1638_1641del (p.Ser547fs) rs2120468389
NM_000424.4(KRT5):c.1649del (p.Gly550fs) rs61126080
NM_000424.4(KRT5):c.1650del (p.Ser551fs) rs2120468268
NM_000424.4(KRT5):c.1A>G (p.Met1Val) rs1064793977
NM_000424.4(KRT5):c.20T>C (p.Val7Ala) rs121912474
NM_000424.4(KRT5):c.418dup (p.Ile140fs) rs61348424
NM_000424.4(KRT5):c.472G>T (p.Asp158Tyr) rs763608512
NM_000424.4(KRT5):c.482T>G (p.Ile161Ser) rs58058996
NM_000424.4(KRT5):c.495G>C (p.Arg165Ser) rs267607456
NM_000424.4(KRT5):c.495G>T (p.Arg165Ser) rs267607456
NM_000424.4(KRT5):c.502G>A (p.Glu168Lys) rs58619430
NM_000424.4(KRT5):c.519G>C (p.Lys173Asn) rs58163069
NM_000424.4(KRT5):c.523C>T (p.Leu175Phe) rs57890479
NM_000424.4(KRT5):c.527A>G (p.Asn176Ser) rs59092197
NM_000424.4(KRT5):c.528C>A (p.Asn176Lys)
NM_000424.4(KRT5):c.530A>G (p.Asn177Ser) rs61495052
NM_000424.4(KRT5):c.538G>C (p.Ala180Pro) rs267607451
NM_000424.4(KRT5):c.541T>C (p.Ser181Pro) rs60715293
NM_000424.4(KRT5):c.555+1G>A rs886039403
NM_000424.4(KRT5):c.74C>T (p.Pro25Leu) rs57499817
NM_000424.4(KRT5):c.771delG rs1938645889
NM_000424.4(KRT5):c.817del (p.Phe272_Val273insTer) rs1565593355
NM_000424.4(KRT5):c.961A>C (p.Thr321Pro) rs1938635857
NM_000424.4(KRT5):c.968T>C (p.Val323Ala) rs59840738
NM_000424.4(KRT5):c.980T>C (p.Met327Thr) rs58072617
NM_000424.4(KRT5):c.983A>T (p.Asp328Val) rs57142010
NM_000424.4(KRT5):c.987C>A (p.Asn329Lys) rs59730172
NM_000424.4(KRT5):c.991C>T (p.Arg331Cys) rs61297109
NM_000424.4(KRT5):c.992G>A (p.Arg331His) rs56729325

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