ClinVar Miner

List of variants in gene KRT5 reported as not provided by Epithelial Biology; Institute of Medical Biology, Singapore

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Gene type:
ClinVar version:
Total variants: 73
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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.413G>A (p.Gly138Glu) rs11170164 0.05271
NM_000424.4(KRT5):c.1636C>A (p.Leu546Ile) rs114734812 0.00394
NM_000424.4(KRT5):c.499G>A (p.Glu167Lys) rs57378129 0.00001
NM_000424.4(KRT5):c.508G>A (p.Glu170Lys) rs59115483 0.00001
NM_000424.4(KRT5):c.991C>A (p.Arg331Ser) rs61297109 0.00001
NM_000424.4(KRT5):c.1054C>A (p.Arg352Ser) rs59112594
NM_000424.4(KRT5):c.10C>T (p.Gln4Ter) rs267607455
NM_000424.4(KRT5):c.1474+4A>G rs267607454
NM_000424.4(KRT5):c.14C>A (p.Ser5Ter) rs58751565
NM_000424.4(KRT5):c.1550G>A (p.Gly517Asp) rs58608695
NM_000424.4(KRT5):c.1635del (p.Leu546fs) rs57187183
NM_000424.4(KRT5):c.1649del (p.Gly550fs) rs61126080
NM_000424.4(KRT5):c.1692C>A (p.Gly564=) rs267607659
NM_000424.4(KRT5):c.1730T>A (p.Phe577Tyr) rs267607442
NM_000424.4(KRT5):c.1755G>A (p.Arg585=) rs267607660
NM_000424.4(KRT5):c.237T>A (p.Ser79Arg) rs1065115
NM_000424.4(KRT5):c.240T>A (p.Gly80=) rs1065116
NM_000424.4(KRT5):c.2T>C (p.Met1Thr) rs267607444
NM_000424.4(KRT5):c.382G>C (p.Gly128Arg) rs267607657
NM_000424.4(KRT5):c.418dup (p.Ile140fs) rs61348424
NM_000424.4(KRT5):c.427G>T (p.Val143Phe) rs267607439
NM_000424.4(KRT5):c.428T>A (p.Val143Asp) rs59851104
NM_000424.4(KRT5):c.428T>C (p.Val143Ala) rs59851104
NM_000424.4(KRT5):c.442_443del (p.Leu149fs) rs57739872
NM_000424.4(KRT5):c.446T>C (p.Leu149Pro) rs267607449
NM_000424.4(KRT5):c.449T>C (p.Leu150Pro) rs62635291
NM_000424.4(KRT5):c.451A>C (p.Thr151Pro) rs267607450
NM_000424.4(KRT5):c.455C>T (p.Pro152Leu) rs60617604
NM_000424.4(KRT5):c.473A>T (p.Asp158Val) rs61222761
NM_000424.4(KRT5):c.482T>G (p.Ile161Ser) rs58058996
NM_000424.4(KRT5):c.489G>T (p.Arg163Ser) rs267607436
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.506G>C (p.Arg169Pro) rs60720877
NM_000424.4(KRT5):c.509A>G (p.Glu170Gly) rs57408864
NM_000424.4(KRT5):c.513G>A (p.Gln171=) rs267607658
NM_000424.4(KRT5):c.514A>G (p.Ile172Val) rs267607445
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.530A>G (p.Asn177Ser) rs61495052
NM_000424.4(KRT5):c.531_533del (p.Asn177del) rs267607441
NM_000424.4(KRT5):c.536T>C (p.Phe179Ser) rs57781042
NM_000424.4(KRT5):c.538G>C (p.Ala180Pro) rs267607451
NM_000424.4(KRT5):c.539C>A (p.Ala180Asp) rs58480900
NM_000424.4(KRT5):c.541T>C (p.Ser181Pro) rs60715293
NM_000424.4(KRT5):c.547A>G (p.Ile183Val) rs58577926
NM_000424.4(KRT5):c.547A>T (p.Ile183Phe) rs58577926
NM_000424.4(KRT5):c.547_549del (p.Ile183del) rs61726460
NM_000424.4(KRT5):c.548T>C (p.Ile183Thr) rs267607661
NM_000424.4(KRT5):c.549C>G (p.Ile183Met) rs267607443
NM_000424.4(KRT5):c.74C>T (p.Pro25Leu) rs57499817
NM_000424.4(KRT5):c.794G>C (p.Arg265Pro) rs201583229
NM_000424.4(KRT5):c.932T>G (p.Leu311Arg) rs59864957
NM_000424.4(KRT5):c.968T>C (p.Val323Ala) rs59840738
NM_000424.4(KRT5):c.971T>A (p.Val324Asp) rs59335325
NM_000424.4(KRT5):c.971T>C (p.Val324Ala) rs59335325
NM_000424.4(KRT5):c.974T>C (p.Leu325Pro) rs58107458
NM_000424.4(KRT5):c.980T>A (p.Met327Lys) rs58072617
NM_000424.4(KRT5):c.980T>C (p.Met327Thr) rs58072617
NM_000424.4(KRT5):c.982G>C (p.Asp328His) rs56790237
NM_000424.4(KRT5):c.983A>G (p.Asp328Gly) rs57142010
NM_000424.4(KRT5):c.983A>T (p.Asp328Val) rs57142010
NM_000424.4(KRT5):c.984C>A (p.Asp328Glu) rs59464425
NM_000424.4(KRT5):c.986A>G (p.Asn329Ser) rs59184265
NM_000424.4(KRT5):c.987C>A (p.Asn329Lys) rs59730172
NM_000424.4(KRT5):c.991C>G (p.Arg331Gly) rs61297109
NM_000424.4(KRT5):c.991C>T (p.Arg331Cys) rs61297109
NM_000424.4(KRT5):c.992G>A (p.Arg331His) rs56729325

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