ClinVar Miner

List of variants in gene KRT6C reported as uncertain significance for Inborn genetic diseases

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Gene type:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_173086.5(KRT6C):c.301G>A (p.Gly101Ser) rs535067470 0.00076
NM_173086.5(KRT6C):c.244G>A (p.Gly82Ser) rs750812502 0.00026
NM_173086.5(KRT6C):c.307G>A (p.Gly103Ser) rs771924434 0.00026
NM_173086.5(KRT6C):c.46C>T (p.Arg16Trp) rs138260820 0.00025
NM_173086.5(KRT6C):c.61A>G (p.Asn21Asp) rs200613767 0.00024
NM_173086.5(KRT6C):c.47G>A (p.Arg16Gln) rs145690917 0.00017
NM_173086.5(KRT6C):c.1544A>C (p.Tyr515Ser) rs142242212 0.00012
NM_173086.5(KRT6C):c.1604T>C (p.Ile535Thr) rs368905186 0.00012
NM_173086.5(KRT6C):c.364T>C (p.Phe122Leu) rs764637102 0.00012
NM_173086.5(KRT6C):c.1020A>T (p.Gln340His) rs575947038 0.00010
NM_173086.5(KRT6C):c.1256C>T (p.Ala419Val) rs150638909 0.00008
NM_173086.5(KRT6C):c.1435G>A (p.Glu479Lys) rs143419682 0.00008
NM_173086.5(KRT6C):c.1243C>T (p.Arg415Cys) rs759012703 0.00007
NM_173086.5(KRT6C):c.1315C>G (p.Gln439Glu) rs772403772 0.00005
NM_173086.5(KRT6C):c.1396C>T (p.Arg466Cys) rs754984737 0.00005
NM_173086.5(KRT6C):c.1426C>G (p.Leu476Val) rs371468604 0.00003
NM_173086.5(KRT6C):c.1510G>A (p.Gly504Ser) rs548540602 0.00003
NM_173086.5(KRT6C):c.991G>C (p.Asp331His) rs760159262 0.00003
NM_173086.5(KRT6C):c.1156C>T (p.Arg386Cys) rs770832964 0.00002
NM_173086.5(KRT6C):c.1244G>A (p.Arg415His) rs748113564 0.00002
NM_173086.5(KRT6C):c.971A>T (p.Asn324Ile) rs756293332 0.00002
NM_173086.5(KRT6C):c.1183A>T (p.Ile395Phe) rs756592237 0.00001
NM_173086.5(KRT6C):c.376G>A (p.Gly126Ser) rs1365310478 0.00001
NM_173086.5(KRT6C):c.854A>G (p.Gln285Arg) rs768706973 0.00001
NM_173086.5(KRT6C):c.1024G>A (p.Glu342Lys)
NM_173086.5(KRT6C):c.1045C>T (p.Arg349Trp) rs151169574
NM_173086.5(KRT6C):c.1064G>C (p.Trp355Ser) rs1351658415
NM_173086.5(KRT6C):c.1069C>A (p.Gln357Lys)
NM_173086.5(KRT6C):c.1083G>T (p.Glu361Asp)
NM_173086.5(KRT6C):c.1109A>G (p.His370Arg) rs1396038226
NM_173086.5(KRT6C):c.1123C>T (p.Arg375Cys)
NM_173086.5(KRT6C):c.1130C>T (p.Thr377Ile)
NM_173086.5(KRT6C):c.1220C>T (p.Ala407Val)
NM_173086.5(KRT6C):c.1252A>G (p.Met418Val)
NM_173086.5(KRT6C):c.1294G>T (p.Asp432Tyr) rs141915659
NM_173086.5(KRT6C):c.1337A>C (p.Lys446Thr)
NM_173086.5(KRT6C):c.1360G>A (p.Val454Ile) rs2121517704
NM_173086.5(KRT6C):c.1444G>A (p.Gly482Arg) rs2498465221
NM_173086.5(KRT6C):c.155G>A (p.Gly52Glu) rs1304008371
NM_173086.5(KRT6C):c.161C>T (p.Ala54Val)
NM_173086.5(KRT6C):c.169G>C (p.Gly57Arg) rs1430977110
NM_173086.5(KRT6C):c.233C>T (p.Ala78Val)
NM_173086.5(KRT6C):c.286G>C (p.Ala96Pro)
NM_173086.5(KRT6C):c.298T>A (p.Phe100Ile)
NM_173086.5(KRT6C):c.298T>G (p.Phe100Val) rs1349369885
NM_173086.5(KRT6C):c.614C>T (p.Thr205Ile)
NM_173086.5(KRT6C):c.695G>A (p.Arg232Gln) rs370835586
NM_173086.5(KRT6C):c.706G>T (p.Asp236Tyr) rs751024661
NM_173086.5(KRT6C):c.710C>T (p.Ser237Leu)
NM_173086.5(KRT6C):c.733C>A (p.Leu245Met)
NM_173086.5(KRT6C):c.778C>T (p.Arg260Cys)
NM_173086.5(KRT6C):c.836T>A (p.Met279Lys)
NM_173086.5(KRT6C):c.844G>A (p.Val282Ile)
NM_173086.5(KRT6C):c.905A>G (p.Tyr302Cys)
NM_173086.5(KRT6C):c.910G>A (p.Ala304Thr)
NM_173086.5(KRT6C):c.959T>C (p.Leu320Pro) rs2498468449
NM_173086.5(KRT6C):c.995G>A (p.Ser332Asn) rs761529098

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