ClinVar Miner

List of variants studied for Cockayne syndrome type 1

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ClinVar version:
Total variants: 123
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HGVS dbSNP gnomAD frequency
NM_000082.4(ERCC8):c.*105T>C rs3117 0.36900
NM_000082.4(ERCC8):c.435T>C (p.Tyr145=) rs4647100 0.19656
NM_000082.4(ERCC8):c.*439G>T rs4647155 0.09291
NM_000082.4(ERCC8):c.*519C>A rs4647157 0.05096
NM_000082.4(ERCC8):c.173+1158A>G rs4647068 0.02409
NM_000082.4(ERCC8):c.-23T>G rs4647038 0.02401
NM_000082.4(ERCC8):c.*458T>C rs4647156 0.01803
NM_000082.4(ERCC8):c.*36C>T rs4647152 0.01630
NM_000082.4(ERCC8):c.363T>C (p.Asp121=) rs4647088 0.01289
NM_000082.4(ERCC8):c.*237T>C rs4647153 0.01170
NM_000082.4(ERCC8):c.504A>G (p.Val168=) rs35366433 0.00639
NM_000082.4(ERCC8):c.839C>A (p.Thr280Lys) rs61754098 0.00199
NM_000082.4(ERCC8):c.655G>C (p.Ala219Pro) rs150727525 0.00131
NM_000082.4(ERCC8):c.1080T>C (p.Ala360=) rs4647130 0.00120
NM_000082.4(ERCC8):c.66G>A (p.Glu22=) rs149130938 0.00090
NM_000082.4(ERCC8):c.1012G>A (p.Asp338Asn) rs141845482 0.00063
NM_000082.4(ERCC8):c.1023A>G (p.Val341=) rs138173863 0.00032
NM_000082.4(ERCC8):c.173+9A>G rs143356896 0.00017
NM_000082.4(ERCC8):c.1070A>G (p.Asn357Ser) rs199590588 0.00013
NM_000082.4(ERCC8):c.911G>A (p.Ser304Asn) rs201642761 0.00009
NM_000082.4(ERCC8):c.250T>C (p.Cys84Arg) rs146740678 0.00008
NM_000082.4(ERCC8):c.173+1119G>C rs1043679457 0.00006
NM_000082.4(ERCC8):c.430G>A (p.Val144Ile) rs192695896 0.00006
NM_000082.4(ERCC8):c.613G>C (p.Ala205Pro) rs121434326 0.00006
NM_000082.4(ERCC8):c.149A>G (p.Asp50Gly) rs373174008 0.00005
NM_000082.4(ERCC8):c.37G>T (p.Glu13Ter) rs121434324 0.00005
NM_000082.4(ERCC8):c.300C>G (p.Tyr100Ter) rs143367518 0.00004
NM_000082.4(ERCC8):c.382G>A (p.Asp128Asn) rs561366032 0.00004
NM_000082.4(ERCC8):c.481G>A (p.Val161Ile) rs148393161 0.00004
NM_000082.4(ERCC8):c.399+1G>A rs774047625 0.00003
NM_000082.4(ERCC8):c.409G>A (p.Val137Ile) rs150952570 0.00003
NM_000082.4(ERCC8):c.472T>C (p.Leu158=) rs561001438 0.00003
NM_000082.4(ERCC8):c.650del (p.Arg217fs) rs1561502158 0.00003
NM_174889.5(NDUFAF2):c.114C>G (p.Tyr38Ter) rs199754807 0.00003
NM_000082.4(ERCC8):c.*763A>C rs886060717 0.00002
NM_000082.4(ERCC8):c.419T>G (p.Phe140Cys) rs373783755 0.00002
NM_000082.4(ERCC8):c.*116T>C rs1747937844 0.00001
NM_000082.4(ERCC8):c.*602C>G rs1000325333 0.00001
NM_000082.4(ERCC8):c.*724C>G rs886060718 0.00001
NM_000082.4(ERCC8):c.1042-1G>A rs897535441 0.00001
NM_000082.4(ERCC8):c.1042-2A>G rs372237310 0.00001
NM_000082.4(ERCC8):c.1095dup (p.Tyr366fs) rs750622098 0.00001
NM_000082.4(ERCC8):c.1122+1G>A rs1482664387 0.00001
NM_000082.4(ERCC8):c.1137del (p.Gln380fs) rs1343747301 0.00001
NM_000082.4(ERCC8):c.173+1G>A rs1476095782 0.00001
NM_000082.4(ERCC8):c.311C>G (p.Thr104Ser) rs886060722 0.00001
NM_000082.4(ERCC8):c.399+3A>G rs768423381 0.00001
NM_000082.4(ERCC8):c.478G>A (p.Ala160Thr) rs281875222 0.00001
NM_000082.4(ERCC8):c.479C>T (p.Ala160Val) rs121434325 0.00001
NM_000082.4(ERCC8):c.551-10G>T rs758296965 0.00001
NM_000082.4(ERCC8):c.590G>A (p.Arg197His) rs763453717 0.00001
NM_000082.4(ERCC8):c.600dup (p.Ile201fs) rs1468231556 0.00001
NM_000082.4(ERCC8):c.618-1G>A rs201464610 0.00001
NM_000082.4(ERCC8):c.769G>A (p.Gly257Arg) rs770499406 0.00001
NM_000082.4(ERCC8):c.802C>T (p.Arg268Ter) rs370657735 0.00001
NM_000082.4(ERCC8):c.843+1G>T rs1305258765 0.00001
NM_000082.4(ERCC8):c.872G>A (p.Ser291Asn) rs933739444 0.00001
NM_174889.5(NDUFAF2):c.18T>G (p.Asp6Glu) rs886060726 0.00001
NC_000005.10:g.60945364C>T rs1554076325
NC_000005.9:g.60164820_60244992del
NM_000082.3:c.844_1122del
NM_000082.4(ERCC8):c.*113A>G rs567684336
NM_000082.4(ERCC8):c.*377C>G rs1747930621
NM_000082.4(ERCC8):c.*462T>A rs886060719
NM_000082.4(ERCC8):c.*583T>C rs4647158
NM_000082.4(ERCC8):c.*644G>A rs181536191
NM_000082.4(ERCC8):c.*725T>G rs549186090
NM_000082.4(ERCC8):c.*7T>A rs377745901
NM_000082.4(ERCC8):c.-25G>C rs745927528
NM_000082.4(ERCC8):c.-33C>T rs769026318
NM_000082.4(ERCC8):c.1006del (p.Thr336fs) rs1554072703
NM_000082.4(ERCC8):c.1041G>A (p.Gln347=)
NM_000082.4(ERCC8):c.1042-1G>C rs897535441
NM_000082.4(ERCC8):c.1105G>C (p.Val369Leu) rs543291626
NM_000082.4(ERCC8):c.1125del (p.Thr376fs) rs1554071508
NM_000082.4(ERCC8):c.1159G>C (p.Asp387His) rs368676801
NM_000082.4(ERCC8):c.1181AAG[1] (p.Glu395del) rs754890794
NM_000082.4(ERCC8):c.1186_*1del (p.Gly396fs) rs1554071495
NM_000082.4(ERCC8):c.141del (p.Asn47fs) rs786205176
NM_000082.4(ERCC8):c.182C>G (p.Ser61Ter) rs1749618632
NM_000082.4(ERCC8):c.185G>A (p.Gly62Asp) rs1749618539
NM_000082.4(ERCC8):c.202A>T (p.Ile68Phe) rs1749617646
NM_000082.4(ERCC8):c.274dup (p.Arg92fs)
NM_000082.4(ERCC8):c.275+1G>T rs2112522829
NM_000082.4(ERCC8):c.276-2A>G rs1554074597
NM_000082.4(ERCC8):c.295_297delinsTG (p.Arg99fs) rs1131691783
NM_000082.4(ERCC8):c.300C>A (p.Tyr100Ter) rs143367518
NM_000082.4(ERCC8):c.302G>C (p.Ser101Thr) rs367874889
NM_000082.4(ERCC8):c.313_314del (p.Val105fs) rs1404477615
NM_000082.4(ERCC8):c.317_320dup (p.Trp107Ter) rs1580023012
NM_000082.4(ERCC8):c.394_398del (p.Leu132fs) rs774542633
NM_000082.4(ERCC8):c.397C>T (p.Gln133Ter) rs1749495521
NM_000082.4(ERCC8):c.427del (p.Thr143fs)
NM_000082.4(ERCC8):c.439CAT[1] (p.His148del) rs1249878855
NM_000082.4(ERCC8):c.454_460dup (p.Thr154fs)
NM_000082.4(ERCC8):c.481+1G>C rs1580007152
NM_000082.4(ERCC8):c.482-2A>G rs1554073420
NM_000082.4(ERCC8):c.485G>A (p.Gly162Asp) rs1748970086
NM_000082.4(ERCC8):c.523T>C (p.Ser175Pro)
NM_000082.4(ERCC8):c.550+2T>C
NM_000082.4(ERCC8):c.551-1G>A rs1554073316
NM_000082.4(ERCC8):c.559C>T (p.Gln187Ter)
NM_000082.4(ERCC8):c.562_564del (p.Glu188del) rs1404307838
NM_000082.4(ERCC8):c.572_574del (p.Ala191del)
NM_000082.4(ERCC8):c.592del (p.Tyr198fs)
NM_000082.4(ERCC8):c.642G>A (p.Trp214Ter) rs1748819276
NM_000082.4(ERCC8):c.647_651dup (p.Arg218Ter) rs1554073177
NM_000082.4(ERCC8):c.679del (p.Asp227fs) rs1554073175
NM_000082.4(ERCC8):c.719-2A>G rs1554073117
NM_000082.4(ERCC8):c.719-2A>T rs1554073117
NM_000082.4(ERCC8):c.77+2T>G rs1554076239
NM_000082.4(ERCC8):c.78-2A>T rs748379243
NM_000082.4(ERCC8):c.797A>C (p.Asp266Ala) rs281875225
NM_000082.4(ERCC8):c.812T>C (p.Leu271Pro) rs886060721
NM_000082.4(ERCC8):c.903T>A (p.Cys301Ter) rs1748531932
NM_000082.4(ERCC8):c.928del (p.Val310fs) rs1554072713
NM_000082.4(ERCC8):c.945C>T (p.Thr315=) rs1173045461
NM_000082.4(ERCC8):c.95T>A (p.Leu32Ter) rs1749828987
NM_000082.4(ERCC8):c.966C>A (p.Tyr322Ter) rs121434323
NM_000082.4(ERCC8):c.976C>T (p.Gln326Ter) rs1748527879
NM_000082.4:c.[275+768_399+346del;399+347_399+2002inv;399+2003_399+2557delinsTACTTAAT]
NM_174889.5(NDUFAF2):c.13C>T (p.Gln5Ter) rs772489808
Single allele

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