ClinVar Miner

List of variants in gene KRT14 reported by Epithelial Biology; Institute of Medical Biology, Singapore

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 99
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HGVS dbSNP gnomAD frequency
NM_000526.5(KRT14):c.193C>T (p.Leu65=) rs3826551 0.58145
NM_000526.5(KRT14):c.189C>T (p.Cys63=) rs11551758 0.56357
NM_000526.5(KRT14):c.369T>C (p.Asn123=) rs3826549 0.56333
NM_000526.5(KRT14):c.280G>A (p.Ala94Thr) rs3826550 0.40897
NM_000526.5(KRT14):c.231C>T (p.Ser77=) rs6503639 0.25809
NM_000526.5(KRT14):c.1322-13A>G rs2001185 0.17177
NM_000526.5(KRT14):c.1237G>A (p.Ala413Thr) rs59780231 0.01556
NM_000526.5(KRT14):c.188= (p.Cys63=) rs1555572096 0.00544
NM_000526.5(KRT14):c.88C>T (p.Arg30Cys) rs201069984 0.00188
NM_000526.5(KRT14):c.1264G>A (p.Glu422Lys) rs58762773 0.00003
NM_000526.5(KRT14):c.400C>T (p.Arg134Cys) rs58706476 0.00002
NM_000526.5(KRT14):c.612T>A (p.Tyr204Ter) rs60725382 0.00002
NM_000526.5(KRT14):c.1130T>C (p.Ile377Thr) rs61536893 0.00001
NM_000526.5(KRT14):c.19C>T (p.Gln7Ter) rs267607391 0.00001
NM_000526.5(KRT14):c.526-2A>C rs200779504 0.00001
NM_000526.5(KRT14):c.92del (p.Ile31fs) rs60231560 0.00001
NM_000526.5(KRT14):c.1117_1158dup (p.Ile373_Gln386dup) rs267607401
NM_000526.5(KRT14):c.1123_1125del (p.Glu375del) rs56974573
NM_000526.5(KRT14):c.1130T>A (p.Ile377Asn) rs61536893
NM_000526.5(KRT14):c.1141G>A (p.Glu381Lys) rs267607399
NM_000526.5(KRT14):c.1151T>C (p.Leu384Pro) rs59629244
NM_000526.5(KRT14):c.1162C>G (p.Arg388Gly) rs59966597
NM_000526.5(KRT14):c.1162C>T (p.Arg388Cys) rs59966597
NM_000526.5(KRT14):c.1163G>C (p.Arg388Pro) rs58645163
NM_000526.5(KRT14):c.1174G>T (p.Glu392Ter) rs267607395
NM_000526.5(KRT14):c.1186C>T (p.Gln396Ter) rs58393329
NM_000526.5(KRT14):c.1202T>C (p.Leu401Pro) rs267607394
NM_000526.5(KRT14):c.1218del (p.Arg407fs) rs58397858
NM_000526.5(KRT14):c.1222C>A (p.Leu408Met) rs57200223
NM_000526.5(KRT14):c.1228C>T (p.Gln410Ter) rs267607400
NM_000526.5(KRT14):c.1231G>A (p.Glu411Lys) rs61664582
NM_000526.5(KRT14):c.1231G>T (p.Glu411Ter) rs61664582
NM_000526.5(KRT14):c.1231_1233del (p.Glu411del) rs267607389
NM_000526.5(KRT14):c.1234A>T (p.Ile412Phe) rs267607403
NM_000526.5(KRT14):c.1235T>A (p.Ile412Asn) rs267607393
NM_000526.5(KRT14):c.1237G>C (p.Ala413Pro) rs59780231
NM_000526.5(KRT14):c.1240_1249del (p.Thr414fs) rs267607404
NM_000526.5(KRT14):c.1243T>C (p.Tyr415His) rs58380626
NM_000526.5(KRT14):c.1244A>G (p.Tyr415Cys) rs59442925
NM_000526.5(KRT14):c.1246del (p.Arg416fs) rs58357841
NM_000526.5(KRT14):c.1247G>C (p.Arg416Pro) rs60622724
NM_000526.5(KRT14):c.1250G>C (p.Arg417Pro) rs61085704
NM_000526.5(KRT14):c.1252C>G (p.Leu418Val) rs59440884
NM_000526.5(KRT14):c.1256T>A (p.Leu419Gln) rs57364972
NM_000526.5(KRT14):c.129dup (p.Ser44fs) rs59829117
NM_000526.5(KRT14):c.17del (p.Arg6fs) rs267607390
NM_000526.5(KRT14):c.242dup (p.Gly81_Ser82insTer) rs59799857
NM_000526.5(KRT14):c.313_314del (p.Ala105fs) rs57278315
NM_000526.5(KRT14):c.346A>G (p.Lys116Glu) rs60338701
NM_000526.5(KRT14):c.346A>T (p.Lys116Ter) rs60338701
NM_000526.5(KRT14):c.348G>C (p.Lys116Asn) rs59271739
NM_000526.5(KRT14):c.355A>G (p.Met119Val) rs61263401
NM_000526.5(KRT14):c.356T>C (p.Met119Thr) rs28928893
NM_000526.5(KRT14):c.357G>A (p.Met119Ile) rs57358989
NM_000526.5(KRT14):c.359A>C (p.Gln120Pro) rs60993843
NM_000526.5(KRT14):c.359A>G (p.Gln120Arg) rs60993843
NM_000526.5(KRT14):c.364C>T (p.Leu122Phe) rs59110575
NM_000526.5(KRT14):c.368A>G (p.Asn123Ser) rs60171927
NM_000526.5(KRT14):c.369T>A (p.Asn123Lys) rs3826549
NM_000526.5(KRT14):c.373C>G (p.Arg125Gly) rs60399023
NM_000526.5(KRT14):c.373C>T (p.Arg125Cys) rs60399023
NM_000526.5(KRT14):c.374G>A (p.Arg125His) rs58330629
NM_000526.5(KRT14):c.374G>C (p.Arg125Pro) rs58330629
NM_000526.5(KRT14):c.374G>T (p.Arg125Leu) rs58330629
NM_000526.5(KRT14):c.380CCT[1] (p.Ser128del) rs61221088
NM_000526.5(KRT14):c.382T>C (p.Ser128Pro) rs267607396
NM_000526.5(KRT14):c.385T>G (p.Tyr129Asp) rs60470268
NM_000526.5(KRT14):c.386A>G (p.Tyr129Cys) rs60352920
NM_000526.5(KRT14):c.389T>C (p.Leu130Pro) rs57522245
NM_000526.5(KRT14):c.397G>A (p.Val133Met) rs61027685
NM_000526.5(KRT14):c.397G>C (p.Val133Leu) rs61027685
NM_000526.5(KRT14):c.397G>T (p.Val133Leu) rs61027685
NM_000526.5(KRT14):c.398T>C (p.Val133Ala) rs1555603282
NM_000526.5(KRT14):c.399G>T (p.Val133=) rs61545959
NM_000526.5(KRT14):c.401G>C (p.Arg134Pro) rs61540016
NM_000526.5(KRT14):c.407T>A (p.Leu136Gln) rs267607392
NM_000526.5(KRT14):c.407T>C (p.Leu136Pro) rs267607392
NM_000526.5(KRT14):c.419A>G (p.Asn140Ser) rs267607397
NM_000526.5(KRT14):c.427del (p.Leu143fs) rs57180772
NM_000526.5(KRT14):c.428T>C (p.Leu143Pro) rs61326242
NM_000526.5(KRT14):c.431A>C (p.Glu144Ala) rs57121345
NM_000526.5(KRT14):c.442C>T (p.Arg148Cys) rs58378809
NM_000526.5(KRT14):c.528T>G (p.Ile176Met) rs61765950
NM_000526.5(KRT14):c.529_534del (p.Leu177_Thr178del) rs62652044
NM_000526.5(KRT14):c.54C>A (p.Cys18Ter) rs60831116
NM_000526.5(KRT14):c.556G>A (p.Val186Ile) rs267607651
NM_000526.5(KRT14):c.632G>C (p.Arg211Pro) rs60589227
NM_000526.5(KRT14):c.744delinsAG (p.Tyr248Ter) rs60779206
NM_000526.5(KRT14):c.749del (p.Lys250fs) rs267607406
NM_000526.5(KRT14):c.803T>A (p.Val268Asp) rs267607398
NM_000526.5(KRT14):c.808G>A (p.Val270Met) rs58560979
NM_000526.5(KRT14):c.815T>C (p.Met272Thr) rs61371557
NM_000526.5(KRT14):c.815T>G (p.Met272Arg) rs61371557
NM_000526.5(KRT14):c.818A>G (p.Asp273Gly) rs59375065
NM_000526.5(KRT14):c.821C>A (p.Ala274Asp) rs58785777
NM_000526.5(KRT14):c.915G>A (p.Trp305Ter) rs60090257
NM_000526.5(KRT14):c.927+1G>A rs113582618
NM_000526.5(KRT14):c.927+1G>T rs113582618
NM_000526.5(KRT14):c.955A>C (p.Thr319Pro) rs267607405

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