ClinVar Miner

List of variants in gene KRT8 reported by Epithelial Biology; Institute of Medical Biology, Singapore

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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_002273.4(KRT8):c.681A>G (p.Leu227=) rs8608 0.49112
NM_002273.4(KRT8):c.1022G>A (p.Arg341His) rs57422427 0.02267
NM_002273.4(KRT8):c.1300G>A (p.Gly434Ser) rs58573614 0.01799
NM_002273.4(KRT8):c.160T>C (p.Tyr54His) rs57749775 0.00715
NM_002273.4(KRT8):c.184G>T (p.Gly62Cys) rs11554495 0.00545
NM_002273.4(KRT8):c.1202+46A>T rs189690662 0.00452
NM_002273.4(KRT8):c.955G>T (p.Ala319Ser) rs58912304 0.00394
NM_002273.4(KRT8):c.187A>G (p.Ile63Val) rs59536457 0.00302
NM_002273.4(KRT8):c.*38G>A rs267607663 0.00124
NM_002273.4(KRT8):c.1128G>A (p.Glu376=) rs61616174 0.00119
NM_002273.4(KRT8):c.*8C>T rs201942002 0.00115
NM_002273.4(KRT8):c.*31C>T rs267607662 0.00045
NM_002273.4(KRT8):c.1138G>A (p.Val380Ile) rs56997521 0.00025
NM_002273.4(KRT8):c.1392G>T (p.Lys464Asn) rs201507031 0.00018
NM_002273.4(KRT8):c.216G>A (p.Leu72=) rs58262021 0.00004
NM_002273.4(KRT8):c.158G>T (p.Gly53Val) rs61710484 0.00003
NM_002273.4(KRT8):c.1360C>T (p.Arg454Cys) rs267607479 0.00002
NM_002273.4(KRT8):c.164G>C (p.Gly55Ala) rs57282588 0.00002
NM_002273.4(KRT8):c.1021C>T (p.Arg341Cys) rs62636489 0.00001
NM_002273.4(KRT8):c.1261+11del rs267607664
NM_002273.4(KRT8):c.1261+20G>A rs267607665
NM_002273.4(KRT8):c.77C>G (p.Thr26Arg) rs57286292

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