ClinVar Miner

List of variants in gene KRT14 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_000526.5(KRT14):c.424G>A (p.Asp142Asn) rs146142399 0.00011
NM_000526.5(KRT14):c.211G>A (p.Gly71Ser) rs556361680 0.00005
NM_000526.5(KRT14):c.1003C>T (p.Arg335Trp) rs765544134 0.00001
NM_000526.5(KRT14):c.1321+8C>A rs1360694320 0.00001
NC_000017.10:g.(?_39738787)_(39739685_?)del
NM_000526.5(KRT14):c.100G>A (p.Val34Ile)
NM_000526.5(KRT14):c.1053+1G>A
NM_000526.5(KRT14):c.1138G>A (p.Val380Met)
NM_000526.5(KRT14):c.1199T>G (p.Ile400Ser)
NM_000526.5(KRT14):c.1220G>A (p.Arg407Gln) rs767154712
NM_000526.5(KRT14):c.122G>A (p.Arg41His)
NM_000526.5(KRT14):c.1246C>A (p.Arg416Ser)
NM_000526.5(KRT14):c.1246C>T (p.Arg416Cys)
NM_000526.5(KRT14):c.1249C>T (p.Arg417Cys)
NM_000526.5(KRT14):c.1250G>C (p.Arg417Pro) rs61085704
NM_000526.5(KRT14):c.1275-1G>A rs2144581975
NM_000526.5(KRT14):c.1304C>T (p.Ser435Leu)
NM_000526.5(KRT14):c.1336C>T (p.Arg446Cys)
NM_000526.5(KRT14):c.1346G>A (p.Arg449His)
NM_000526.5(KRT14):c.1406G>A (p.Arg469His)
NM_000526.5(KRT14):c.163T>C (p.Ser55Pro) rs2144586557
NM_000526.5(KRT14):c.17G>A (p.Arg6His)
NM_000526.5(KRT14):c.220AGC[7] (p.Ser79_Phe80insSer)
NM_000526.5(KRT14):c.324T>A (p.Asp108Glu)
NM_000526.5(KRT14):c.328C>G (p.Leu110Val)
NM_000526.5(KRT14):c.380CCT[1] (p.Ser128del) rs61221088
NM_000526.5(KRT14):c.415G>C (p.Ala139Pro)
NM_000526.5(KRT14):c.463C>T (p.Arg155Trp)
NM_000526.5(KRT14):c.468_470delinsCAG (p.Ala157Ser)
NM_000526.5(KRT14):c.474G>T (p.Glu158Asp)
NM_000526.5(KRT14):c.52T>G (p.Cys18Gly)
NM_000526.5(KRT14):c.566A>G (p.Gln189Arg) rs748092575
NM_000526.5(KRT14):c.601C>T (p.Arg201Cys)
NM_000526.5(KRT14):c.678C>A (p.Asp226Glu)
NM_000526.5(KRT14):c.73G>A (p.Gly25Arg)
NM_000526.5(KRT14):c.740C>A (p.Ala247Asp)
NM_000526.5(KRT14):c.748A>C (p.Lys250Gln)
NM_000526.5(KRT14):c.851T>C (p.Leu284Pro) rs2144583093
NM_000526.5(KRT14):c.854A>C (p.Asn285Thr)
NM_000526.5(KRT14):c.856G>A (p.Glu286Lys) rs202157466
NM_000526.5(KRT14):c.874G>A (p.Glu292Lys)
NM_000526.5(KRT14):c.881T>C (p.Met294Thr)
NM_000526.5(KRT14):c.89G>T (p.Arg30Leu)
NM_000526.5(KRT14):c.907G>A (p.Glu303Lys) rs1907424216

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