ClinVar Miner

List of variants in gene DKC1 studied for Dyskeratosis congenita, X-linked

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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_001363.5(DKC1):c.369G>T (p.Thr123=) rs2728532 0.99384
NM_001363.5(DKC1):c.*6G>A rs1800533 0.14655
NM_001363.5(DKC1):c.838A>C (p.Ser280Arg) rs146700772 0.00028
NM_001363.5(DKC1):c.1075G>A (p.Asp359Asn) rs199422249 0.00001
NM_001363.5(DKC1):c.1318G>A (p.Glu440Lys) rs782193188 0.00001
NC_000023.11:g.(154776372_154776374)_(154778317_154778319)del
NM_001363.5(DKC1):c.1049T>C (p.Met350Thr) rs121912300
NM_001363.5(DKC1):c.1050G>A (p.Met350Ile) rs121912298
NM_001363.5(DKC1):c.1054A>G (p.Thr352Ala) rs1114167422
NM_001363.5(DKC1):c.1058C>T (p.Ala353Val) rs121912288
NM_001363.5(DKC1):c.1069A>G (p.Thr357Ala) rs137854492
NM_001363.5(DKC1):c.106T>G (p.Phe36Val) rs121912293
NM_001363.5(DKC1):c.109_111del (p.Leu37del) rs137854489
NM_001363.5(DKC1):c.1133G>A (p.Arg378Gln) rs1057520719
NM_001363.5(DKC1):c.113T>C (p.Ile38Thr) rs28936072
NM_001363.5(DKC1):c.114C>G (p.Ile38Met)
NM_001363.5(DKC1):c.1150C>T (p.Pro384Ser) rs199422250
NM_001363.5(DKC1):c.1151C>T (p.Pro384Leu) rs199422251
NM_001363.5(DKC1):c.1156G>A (p.Ala386Thr) rs199422252
NM_001363.5(DKC1):c.115A>G (p.Lys39Glu) rs121912296
NM_001363.5(DKC1):c.1193T>C (p.Leu398Pro) rs199422253
NM_001363.5(DKC1):c.1195G>C (p.Asp399His) rs2071871731
NM_001363.5(DKC1):c.119C>G (p.Pro40Arg) rs121912292
NM_001363.5(DKC1):c.1204G>A (p.Gly402Arg) rs121912299
NM_001363.5(DKC1):c.1205G>A (p.Gly402Glu) rs121912295
NM_001363.5(DKC1):c.1214C>T (p.Thr405Ile)
NM_001363.5(DKC1):c.121G>A (p.Glu41Lys) rs121912302
NM_001363.5(DKC1):c.1223C>T (p.Thr408Ile) rs199422254
NM_001363.5(DKC1):c.1225C>T (p.Pro409Ser) rs2148516431
NM_001363.5(DKC1):c.1226C>T (p.Pro409Leu) rs121912289
NM_001363.5(DKC1):c.1240C>G (p.Gln414Glu)
NM_001363.5(DKC1):c.1255T>A (p.Tyr419Asn) rs1557265435
NM_001363.5(DKC1):c.1259+1G>A rs1569558616
NM_001363.5(DKC1):c.127A>G (p.Lys43Glu) rs199422243
NM_001363.5(DKC1):c.133G>A (p.Ala45Thr) rs2071733846
NM_001363.5(DKC1):c.1429AAG[1] (p.Lys478del) rs2148517599
NM_001363.5(DKC1):c.146C>T (p.Thr49Met) rs121912304
NM_001363.5(DKC1):c.1494GAA[6] (p.Lys505del) rs782576893
NM_001363.5(DKC1):c.1494GAA[8] (p.Lys505dup) rs782576893
NM_001363.5(DKC1):c.16+592C>G rs1603429348
NM_001363.5(DKC1):c.166_167delinsTC (p.Leu56Ser) rs121912287
NM_001363.5(DKC1):c.194G>C (p.Arg65Thr) rs121912301
NM_001363.5(DKC1):c.196A>G (p.Thr66Ala) rs121912297
NM_001363.5(DKC1):c.200C>T (p.Thr67Ile) rs199422244
NM_001363.5(DKC1):c.203A>G (p.His68Arg) rs1557264102
NM_001363.5(DKC1):c.204C>A (p.His68Gln) rs199422245
NM_001363.5(DKC1):c.204C>G (p.His68Gln) rs199422245
NM_001363.5(DKC1):c.214C>T (p.Leu72Phe) rs121912306
NM_001363.5(DKC1):c.214_215delinsTA (p.Leu72Tyr) rs121912294
NM_001363.5(DKC1):c.29C>T (p.Pro10Leu) rs199422242
NM_001363.5(DKC1):c.361A>G (p.Ser121Gly) rs121912305
NM_001363.5(DKC1):c.42GAA[1] (p.Lys17del) rs782201995
NM_001363.5(DKC1):c.472C>T (p.Arg158Trp) rs199422246
NM_001363.5(DKC1):c.487A>C (p.Ile163Leu) rs782159247
NM_001363.5(DKC1):c.559A>C (p.Ile187Leu)
NM_001363.5(DKC1):c.5C>T (p.Ala2Val) rs121912303
NM_001363.5(DKC1):c.911G>A (p.Ser304Asn) rs199422247
NM_001363.5(DKC1):c.91C>A (p.Gln31Lys) rs137854491
NM_001363.5(DKC1):c.91C>G (p.Gln31Glu) rs137854491
NM_001363.5(DKC1):c.941A>G (p.Lys314Arg) rs199422248
NM_001363.5(DKC1):c.949C>G (p.Leu317Val) rs121912290
NM_001363.5(DKC1):c.949C>T (p.Leu317Phe) rs121912290
NM_001363.5(DKC1):c.961C>G (p.Leu321Val) rs2728726
NM_001363.5(DKC1):c.964C>T (p.Arg322Ter)
NM_001363.5(DKC1):c.965G>A (p.Arg322Gln) rs121912291

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