ClinVar Miner

List of variants reported as pathogenic for Dyskeratosis congenita

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ClinVar version:
Total variants: 108
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HGVS dbSNP gnomAD frequency
NM_025099.6(CTC1):c.680C>T (p.Ala227Val) rs199473673 0.00011
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter) rs373740199 0.00009
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674 0.00008
NM_025099.6(CTC1):c.2959C>T (p.Arg987Trp) rs202138550 0.00005
NM_025099.6(CTC1):c.1683dup (p.Lys562Ter) rs1053748363 0.00004
NM_001283009.2(RTEL1):c.2920C>T (p.Arg974Ter) rs398123017 0.00003
NM_025099.6(CTC1):c.19C>T (p.Gln7Ter) rs374877315 0.00003
NM_025099.6(CTC1):c.2996_2997del (p.Pro999fs) rs761922947 0.00003
NM_025099.6(CTC1):c.1360del (p.Glu454fs) rs748852501 0.00002
NM_025099.6(CTC1):c.2758+1G>T rs200609323 0.00002
NM_002582.4(PARN):c.918+1G>T rs756132866 0.00001
NM_025099.6(CTC1):c.1186C>T (p.Arg396Ter) rs764019241 0.00001
NM_025099.6(CTC1):c.150G>A (p.Trp50Ter) rs202213253 0.00001
NM_025099.6(CTC1):c.1753C>T (p.Gln585Ter) rs952398755 0.00001
NM_025099.6(CTC1):c.2581G>T (p.Glu861Ter) rs1987206904 0.00001
NM_025099.6(CTC1):c.277C>T (p.Gln93Ter) rs767991627 0.00001
NM_025099.6(CTC1):c.440del (p.Ile147fs) rs1196342305 0.00001
NM_025099.6(CTC1):c.670C>T (p.Arg224Ter) rs1169567839 0.00001
NM_025099.6(CTC1):c.775G>A (p.Val259Met) rs387907080 0.00001
NM_025099.6(CTC1):c.859C>T (p.Arg287Ter) rs397514660 0.00001
NM_198253.3(TERT):c.1796G>A (p.Arg599Gln) rs372511089 0.00001
NC_000017.10:g.(?_8131498)_(8151354_?)del
NC_000017.10:g.(?_8146283)_(8146486_?)del
NC_000017.11:g.(?_7669603)_(8382316_?)del
NM_001071.4(TYMS):c.343C>T (p.Arg115Ter) rs2046518776
NM_001071.4(TYMS):c.486_487del (p.Arg163fs) rs2144335544
NM_001071.4(TYMS):c.534_535insTG (p.Met179Ter) rs2144335824
NM_001071.4(TYMS):c.556+1G>A rs2144335968
NM_001071.4(TYMS):c.811C>T (p.Arg271Ter) rs1703168604
NM_001099274.3(TINF2):c.1090dup (p.Leu364fs) rs1566366182
NM_001099274.3(TINF2):c.815G>A (p.Trp272Ter)
NM_001099274.3(TINF2):c.844C>A (p.Arg282Ser) rs121918545
NM_001099274.3(TINF2):c.844C>T (p.Arg282Cys) rs121918545
NM_001099274.3(TINF2):c.845G>A (p.Arg282His) rs121918544
NM_001099274.3(TINF2):c.845_848dup (p.Thr284fs)
NM_001099274.3(TINF2):c.849dup (p.Thr284fs) rs199422315
NM_001283009.2(RTEL1):c.102+2T>C rs1555899111
NM_001283009.2(RTEL1):c.1135+1G>A rs1555903332
NM_001283009.2(RTEL1):c.2892T>G (p.Phe964Leu) rs1470145133
NM_001283009.2(RTEL1):c.3370del (p.His1124fs) rs1555814400
NM_001363.5(DKC1):c.1058C>T (p.Ala353Val) rs121912288
NM_001363.5(DKC1):c.146C>T (p.Thr49Met) rs121912304
NM_001363.5(DKC1):c.189T>G (p.Asn63Lys)
NM_001363.5(DKC1):c.5_7del (p.Ala2del)
NM_002582.3(PARN):c.[659+4_659+7delAGTA(;)863dupA]
NM_002582.4(PARN):c.1148C>T (p.Ala383Val) rs786200999
NM_025099.6(CTC1):c.1042del (p.Ser348fs) rs1290803035
NM_025099.6(CTC1):c.1070_1074del (p.Ser357fs) rs773120259
NM_025099.6(CTC1):c.1147del (p.Ala384fs)
NM_025099.6(CTC1):c.1156C>T (p.Gln386Ter) rs1203574273
NM_025099.6(CTC1):c.1190dup (p.Gly398fs)
NM_025099.6(CTC1):c.1213del (p.Asp405fs) rs1444923772
NM_025099.6(CTC1):c.122del (p.Leu41fs)
NM_025099.6(CTC1):c.146_149del (p.Val49fs)
NM_025099.6(CTC1):c.1583del (p.Ile528fs)
NM_025099.6(CTC1):c.1617+5G>T
NM_025099.6(CTC1):c.1623_1624del (p.Arg542fs)
NM_025099.6(CTC1):c.1668_1671del (p.Glu557fs) rs1237260493
NM_025099.6(CTC1):c.1746del (p.Ser583fs)
NM_025099.6(CTC1):c.1774_1784dup (p.Cys596fs)
NM_025099.6(CTC1):c.1785_1786del (p.Cys596fs)
NM_025099.6(CTC1):c.1788_1791del (p.Leu597fs)
NM_025099.6(CTC1):c.1814_1818del (p.Ala605fs)
NM_025099.6(CTC1):c.1918C>T (p.Gln640Ter) rs2151512520
NM_025099.6(CTC1):c.1934dup (p.Arg646fs)
NM_025099.6(CTC1):c.1A>C (p.Met1Leu) rs779499831
NM_025099.6(CTC1):c.1A>G (p.Met1Val)
NM_025099.6(CTC1):c.1A>T (p.Met1Leu)
NM_025099.6(CTC1):c.2071C>T (p.Gln691Ter)
NM_025099.6(CTC1):c.2126C>G (p.Ser709Ter) rs1201426650
NM_025099.6(CTC1):c.2291_2292del (p.Tyr764fs) rs2151509277
NM_025099.6(CTC1):c.2322del (p.Arg775fs)
NM_025099.6(CTC1):c.2472del (p.Ala825fs)
NM_025099.6(CTC1):c.248_251dup (p.His84fs) rs745467709
NM_025099.6(CTC1):c.2561_2573del (p.Val854fs) rs1987208048
NM_025099.6(CTC1):c.2605C>T (p.Gln869Ter)
NM_025099.6(CTC1):c.2770dup (p.Ala924fs)
NM_025099.6(CTC1):c.2831del (p.Pro944fs) rs199473677
NM_025099.6(CTC1):c.2831dup (p.His945fs) rs199473677
NM_025099.6(CTC1):c.2880dup (p.Leu961fs) rs2151503544
NM_025099.6(CTC1):c.2888del (p.Pro963fs) rs1987105095
NM_025099.6(CTC1):c.2951GTT[1] (p.Cys985del) rs199473679
NM_025099.6(CTC1):c.2973T>G (p.Tyr991Ter) rs62637613
NM_025099.6(CTC1):c.2978_2981dup (p.Leu995fs) rs2151502269
NM_025099.6(CTC1):c.2T>A (p.Met1Lys) rs1299853886
NM_025099.6(CTC1):c.2T>C (p.Met1Thr) rs1299853886
NM_025099.6(CTC1):c.3019del (p.Leu1007fs)
NM_025099.6(CTC1):c.303_316del (p.Asn102fs) rs2151531785
NM_025099.6(CTC1):c.3049C>T (p.Gln1017Ter) rs1567599296
NM_025099.6(CTC1):c.3099dup (p.Val1034fs) rs1597374251
NM_025099.6(CTC1):c.322C>T (p.Arg108Ter) rs372031509
NM_025099.6(CTC1):c.341del (p.Leu113_Leu114insTer)
NM_025099.6(CTC1):c.3437del (p.Cys1146fs)
NM_025099.6(CTC1):c.409_410del (p.Arg136_Asp137insTer)
NM_025099.6(CTC1):c.458G>A (p.Trp153Ter) rs2151530716
NM_025099.6(CTC1):c.495C>A (p.Tyr165Ter)
NM_025099.6(CTC1):c.58C>T (p.Gln20Ter)
NM_025099.6(CTC1):c.591del (p.Val198fs) rs1567613669
NM_025099.6(CTC1):c.694C>T (p.Arg232Ter)
NM_025099.6(CTC1):c.723_724del (p.Lys242fs)
NM_025099.6(CTC1):c.724_727del (p.Lys242fs) rs199473674
NM_025099.6(CTC1):c.802C>T (p.Gln268Ter)
NM_025099.6(CTC1):c.812G>A (p.Trp271Ter) rs2151524168
NM_025099.6(CTC1):c.880C>T (p.Gln294Ter) rs2151523798
NM_025099.6(CTC1):c.896G>A (p.Trp299Ter)
NM_025099.6(CTC1):c.946C>T (p.Gln316Ter)
NM_198253.3(TERT):c.2839T>C (p.Ser947Pro) rs915854031
NM_198253.3(TERT):c.3346G>C (p.Glu1116Gln) rs1196160200

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