ClinVar Miner

List of variants studied for Cockayne syndrome by Counsyl

Included ClinVar conditions (17):
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Minimum conflict level:
ClinVar version:
Total variants: 118
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HGVS dbSNP
NM_000082.3(ERCC8):c.1006del (p.Thr336fs) rs1554072703
NM_000082.3(ERCC8):c.1042-1G>A rs897535441
NM_000082.3(ERCC8):c.1042-1G>C rs897535441
NM_000082.3(ERCC8):c.1042-2A>G rs372237310
NM_000082.3(ERCC8):c.1095dup (p.Tyr366fs) rs750622098
NM_000082.3(ERCC8):c.1122+1G>A rs1482664387
NM_000082.3(ERCC8):c.1125del (p.Thr376fs) rs1554071508
NM_000082.3(ERCC8):c.1137del (p.Gln380fs) rs1343747301
NM_000082.3(ERCC8):c.1186_*1del (p.Gly396fs) rs1554071495
NM_000082.3(ERCC8):c.173+1G>A rs1476095782
NM_000082.3(ERCC8):c.276-2A>G rs1554074597
NM_000082.3(ERCC8):c.37G>T (p.Glu13Ter) rs121434324
NM_000082.3(ERCC8):c.394_398del (p.Leu132fs) rs774542633
NM_000082.3(ERCC8):c.399+1G>A rs774047625
NM_000082.3(ERCC8):c.478G>A (p.Ala160Thr) rs281875222
NM_000082.3(ERCC8):c.479C>T (p.Ala160Val) rs121434325
NM_000082.3(ERCC8):c.482-2A>G rs1554073420
NM_000082.3(ERCC8):c.551-1G>A rs1554073316
NM_000082.3(ERCC8):c.562_564del (p.Glu188del) rs1404307838
NM_000082.3(ERCC8):c.600dup (p.Ile201fs) rs1468231556
NM_000082.3(ERCC8):c.613G>C (p.Ala205Pro) rs121434326
NM_000082.3(ERCC8):c.618-1G>A rs201464610
NM_000082.3(ERCC8):c.647_651dup (p.Arg218Ter) rs1554073177
NM_000082.3(ERCC8):c.679del (p.Asp227fs) rs1554073175
NM_000082.3(ERCC8):c.719-2A>G rs1554073117
NM_000082.3(ERCC8):c.719-2A>T rs1554073117
NM_000082.3(ERCC8):c.77+2T>G rs1554076239
NM_000082.3(ERCC8):c.843+1G>T rs1305258765
NM_000082.3(ERCC8):c.928del (p.Val310fs) rs1554072713
NM_000124.4(ERCC6):c.-14-2A>G rs760663515
NM_000124.4(ERCC6):c.1009A>T (p.Lys337Ter) rs1198241866
NM_000124.4(ERCC6):c.1062T>A (p.Pro354=) rs764159237
NM_000124.4(ERCC6):c.1062T>C (p.Pro354=) rs764159237
NM_000124.4(ERCC6):c.1134_1136GGA[6] (p.Glu382_Glu384dup) rs1554793268
NM_000124.4(ERCC6):c.1135G>T (p.Glu379Ter) rs1554793270
NM_000124.4(ERCC6):c.1137_1145GGAGGAAGA[1] (p.Glu382_Glu384del) rs1284316063
NM_000124.4(ERCC6):c.1211_1212insTCA (p.Lys405_Pro406insGln) rs772545860
NM_000124.4(ERCC6):c.124_126GAG[1] (p.Glu43del) rs751610688
NM_000124.4(ERCC6):c.1280T>C (p.Phe427Ser) rs886047038
NM_000124.4(ERCC6):c.1281C>T (p.Phe427=) rs267602508
NM_000124.4(ERCC6):c.1319_1321del (p.Gly440del) rs779180885
NM_000124.4(ERCC6):c.1322_1324del (p.Glu441del) rs769020754
NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter) rs121917902
NM_000124.4(ERCC6):c.1397+1G>C rs1554793174
NM_000124.4(ERCC6):c.1398-2A>G rs1317145066
NM_000124.4(ERCC6):c.1482C>T (p.Asp494=) rs150762517
NM_000124.4(ERCC6):c.1527-2A>G rs768608345
NM_000124.4(ERCC6):c.1595A>G (p.Asp532Gly) rs752712823
NM_000124.4(ERCC6):c.1821+1G>A rs1228919836
NM_000124.4(ERCC6):c.1821delinsAA (p.Glu608fs) rs1554789393
NM_000124.4(ERCC6):c.1835G>A (p.Arg612Gln) rs201894064
NM_000124.4(ERCC6):c.184G>A (p.Ala62Thr) rs186839348
NM_000124.4(ERCC6):c.1954C>T (p.Arg652Ter) rs767247987
NM_000124.4(ERCC6):c.2038A>G (p.Asn680Asp) rs1554788393
NM_000124.4(ERCC6):c.2060C>T (p.Ser687Leu) rs1026438103
NM_000124.4(ERCC6):c.2073_2074insCCGCTCTTTGACTTC (p.Ile692_Phe693insProLeuPheAspPhe) rs1554788383
NM_000124.4(ERCC6):c.207dup (p.Pro70fs) rs1554794641
NM_000124.4(ERCC6):c.2096dup (p.Leu700fs) rs774791374
NM_000124.4(ERCC6):c.214del (p.Leu72fs) rs1554794640
NM_000124.4(ERCC6):c.2169+1G>A rs1441655600
NM_000124.4(ERCC6):c.2286+1G>A rs1362935450
NM_000124.4(ERCC6):c.2287-2A>G rs754978734
NM_000124.4(ERCC6):c.2383-1G>A rs1554787554
NM_000124.4(ERCC6):c.2481_2483AGA[2] (p.Glu829del) rs886047036
NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg) rs368728467
NM_000124.4(ERCC6):c.2560C>T (p.Gln854Ter) rs1554787509
NM_000124.4(ERCC6):c.2569C>T (p.Arg857Ter) rs751448793
NM_000124.4(ERCC6):c.257_258GC[1] (p.Ala87fs) rs1554794620
NM_000124.4(ERCC6):c.2599-26A>G rs4253196
NM_000124.4(ERCC6):c.2696C>T (p.Thr899Met) rs374470147
NM_000124.4(ERCC6):c.2829+1G>A rs1554875522
NM_000124.4(ERCC6):c.2839C>T (p.Arg947Ter) rs906755254
NM_000124.4(ERCC6):c.2974C>G (p.Gln992Glu) rs772104945
NM_000124.4(ERCC6):c.3071-1G>A rs1554875287
NM_000124.4(ERCC6):c.3111_3113AAG[1] (p.Arg1039del) rs1342267719
NM_000124.4(ERCC6):c.3412dup (p.Thr1138fs) rs786205170
NM_000124.4(ERCC6):c.3435_3437dup (p.Ser1146_Ile1147insArg) rs1435512927
NM_000124.4(ERCC6):c.3453A>G (p.Leu1151=) rs771604820
NM_000124.4(ERCC6):c.3480C>G (p.Pro1160=) rs886047034
NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs) rs786205171
NM_000124.4(ERCC6):c.3573_3575AGA[2] (p.Glu1194del) rs1248870490
NM_000124.4(ERCC6):c.3589_3590GA[3] (p.Lys1198fs) rs1287286877
NM_000124.4(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203fs) rs786205172
NM_000124.4(ERCC6):c.3614del (p.Lys1205fs) rs1554875155
NM_000124.4(ERCC6):c.3627dup (p.Lys1210Ter) rs1554875154
NM_000124.4(ERCC6):c.3634T>A (p.Cys1212Ser) rs886042655
NM_000124.4(ERCC6):c.3778+1G>C rs1554875114
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter) rs185142838
NM_000124.4(ERCC6):c.3871dup (p.Gln1291fs) rs1386369933
NM_000124.4(ERCC6):c.3914_3925del (p.Leu1305_Ser1309delinsPro) rs1554874085
NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs) rs765825423
NM_000124.4(ERCC6):c.3957del (p.Ile1320fs) rs1554874073
NM_000124.4(ERCC6):c.3984-2A>G rs1554873973
NM_000124.4(ERCC6):c.4062+2T>A rs1554873950
NM_000124.4(ERCC6):c.4063-1G>C rs766980240
NM_000124.4(ERCC6):c.4186A>G (p.Arg1396Gly) rs745352643
NM_000124.4(ERCC6):c.422+1G>A rs1198472093
NM_000124.4(ERCC6):c.422+1G>C rs1198472093
NM_000124.4(ERCC6):c.4382C>G (p.Ser1461Ter) rs1554873743
NM_000124.4(ERCC6):c.4399C>T (p.Arg1467Ter) rs762976316
NM_000124.4(ERCC6):c.439del (p.Ser146_Leu147insTer) rs1554794360
NM_000124.4(ERCC6):c.4438_4440del (p.Ser1480del) rs886047032
NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter) rs771781694
NM_000124.4(ERCC6):c.544-2A>G rs1554794073
NM_000124.4(ERCC6):c.595C>G (p.Leu199Val) rs886047039
NM_000124.4(ERCC6):c.61C>T (p.Gln21Ter) rs577021605
NM_000124.4(ERCC6):c.643G>T (p.Glu215Ter) rs875989810
NM_000124.4(ERCC6):c.779_780dup (p.Arg261fs) rs1254008304
NM_000124.4(ERCC6):c.906_923del (p.Thr303_Val308del) rs765040780
NM_001007233.2(ERCC8):c.1007_1009AAG[1] (p.Glu337del) rs754890794
NM_001290285.1(ERCC8):c.-65_-64del rs1404477615
NM_001290285.1(ERCC8):c.-78C>G rs143367518
NM_001290285.1(ERCC8):c.-83_-81delinsTG rs1131691783
NM_001290285.1(ERCC8):c.23-1115_23-1113del rs1249878855
NM_174889.5(NDUFAF2):c.109C>T (p.Gln37Ter) rs1554076325
NM_174889.5(NDUFAF2):c.114C>G (p.Tyr38Ter) rs199754807
NM_174889.5(NDUFAF2):c.13C>T (p.Gln5Ter) rs772489808
NM_174889.5(NDUFAF2):c.18T>G (p.Asp6Glu) rs886060726

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