ClinVar Miner

List of variants in gene DKC1 studied for Dyskeratosis congenita

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Total variants: 55
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HGVS dbSNP
NC_000023.10:g.(?_153991099)_(154005162_?)dup
NM_001363.5(DKC1):c.1036+6_1036+7del
NM_001363.5(DKC1):c.1039A>G (p.Ile347Val) rs1248744087
NM_001363.5(DKC1):c.1058C>T (p.Ala353Val) rs121912288
NM_001363.5(DKC1):c.109_111del (p.Leu37del) rs137854489
NM_001363.5(DKC1):c.1206G>A (p.Gly402=) rs199803984
NM_001363.5(DKC1):c.1210C>G (p.Pro404Ala)
NM_001363.5(DKC1):c.1223C>T (p.Thr408Ile) rs199422254
NM_001363.5(DKC1):c.1276G>C (p.Glu426Gln)
NM_001363.5(DKC1):c.1293G>A (p.Val431=) rs138065506
NM_001363.5(DKC1):c.1317C>T (p.Ala439=) rs143207180
NM_001363.5(DKC1):c.1334C>T (p.Ala445Val)
NM_001363.5(DKC1):c.1346G>C (p.Arg449Pro) rs1289430524
NM_001363.5(DKC1):c.1349A>T (p.Glu450Val)
NM_001363.5(DKC1):c.1352G>A (p.Ser451Asn)
NM_001363.5(DKC1):c.1409_1411AGA[2] (p.Lys472del) rs781922569
NM_001363.5(DKC1):c.1431G>A (p.Lys477=) rs3752356
NM_001363.5(DKC1):c.1456G>A (p.Gly486Arg) rs150319104
NM_001363.5(DKC1):c.1457G>A (p.Gly486Glu)
NM_001363.5(DKC1):c.146C>T (p.Thr49Met) rs121912304
NM_001363.5(DKC1):c.1494_1496GAA[4] (p.Lys503_Lys505del) rs782576893
NM_001363.5(DKC1):c.1494_1496GAA[5] (p.Lys504_Lys505del) rs782576893
NM_001363.5(DKC1):c.1494_1496GAA[6] (p.Lys505del) rs782576893
NM_001363.5(DKC1):c.1494_1496GAA[8] (p.Lys505dup) rs782576893
NM_001363.5(DKC1):c.1494_1496GAA[9] (p.Lys504_Lys505dup) rs782576893
NM_001363.5(DKC1):c.149C>A (p.Ser50Tyr) rs1569558474
NM_001363.5(DKC1):c.1512G>T (p.Lys504Asn) rs1557265783
NM_001363.5(DKC1):c.1515A>C (p.Lys505Asn) rs1370393255
NM_001363.5(DKC1):c.1524G>T (p.Glu508Asp)
NM_001363.5(DKC1):c.1533G>C (p.Leu511Phe) rs782491403
NM_001363.5(DKC1):c.191T>G (p.Val64Gly)
NM_001363.5(DKC1):c.20T>C (p.Ile7Thr) rs782343800
NM_001363.5(DKC1):c.259A>G (p.Ile87Val) rs782202263
NM_001363.5(DKC1):c.263+6T>C
NM_001363.5(DKC1):c.369= (p.Thr123=) rs2728532
NM_001363.5(DKC1):c.39T>C (p.His13=) rs782044075
NM_001363.5(DKC1):c.415G>A (p.Ala139Thr) rs374799227
NM_001363.5(DKC1):c.42GAA[1] (p.Lys17del)
NM_001363.5(DKC1):c.487A>C (p.Ile163Leu) rs782159247
NM_001363.5(DKC1):c.494G>T (p.Gly165Val)
NM_001363.5(DKC1):c.622G>A (p.Asp208Asn) rs374771308
NM_001363.5(DKC1):c.629A>G (p.Glu210Gly)
NM_001363.5(DKC1):c.640+3G>A
NM_001363.5(DKC1):c.64T>G (p.Leu22Val)
NM_001363.5(DKC1):c.776A>C (p.His259Pro) rs61757608
NM_001363.5(DKC1):c.828C>T (p.His276=) rs1603429504
NM_001363.5(DKC1):c.838A>C (p.Ser280Arg) rs146700772
NM_001363.5(DKC1):c.84+10A>T rs782718798
NM_001363.5(DKC1):c.85-4G>A rs782787521
NM_001363.5(DKC1):c.877T>C (p.Leu293=) rs1603429508
NM_001363.5(DKC1):c.884C>T (p.Ser295Phe)
NM_001363.5(DKC1):c.975C>T (p.Asp325=) rs374103494
NM_001363.5(DKC1):c.976G>A (p.Gly326Ser)
NM_001363.5(DKC1):c.978C>T (p.Gly326=)
NM_001363.5(DKC1):c.97G>A (p.Ala33Thr)

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