ClinVar Miner

List of variants in gene ERCC8 reported as likely pathogenic for Cockayne syndrome

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_000082.4(ERCC8):c.613G>C (p.Ala205Pro) rs121434326 0.00006
NM_000082.4(ERCC8):c.300C>G (p.Tyr100Ter) rs143367518 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.600dup (p.Ile201fs) rs1468231556 0.00002
NM_000082.4(ERCC8):c.1041+1G>T rs1290416270 0.00001
NM_000082.4(ERCC8):c.1042-1G>A rs897535441 0.00001
NM_000082.4(ERCC8):c.1122+1G>A rs1482664387 0.00001
NM_000082.4(ERCC8):c.173+1G>A rs1476095782 0.00001
NM_000082.4(ERCC8):c.378del (p.Trp127fs) rs1749497228 0.00001
NM_000082.4(ERCC8):c.478G>A (p.Ala160Thr) rs281875222 0.00001
NM_000082.4(ERCC8):c.769G>A (p.Gly257Arg) rs770499406 0.00001
NM_000082.4(ERCC8):c.797A>G (p.Asp266Gly) rs281875225 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
NC_000005.9:g.(60200701_60214091)_(60240906_?)del
NC_000005.9:g.(?_60169658)_(60183348_60186715)del
NM_000082.4(ERCC8):c.1042-1G>C rs897535441
NM_000082.4(ERCC8):c.1042-2A>G rs372237310
NM_000082.4(ERCC8):c.1101del (p.Glu367fs)
NM_000082.4(ERCC8):c.162del (p.Glu55fs) rs756880941
NM_000082.4(ERCC8):c.176T>C (p.Met59Thr)
NM_000082.4(ERCC8):c.182C>G (p.Ser61Ter) rs1749618632
NM_000082.4(ERCC8):c.274dup (p.Arg92fs) rs2531839441
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.397C>T (p.Gln133Ter) rs1749495521
NM_000082.4(ERCC8):c.454_460dup (p.Thr154fs) rs2531802244
NM_000082.4(ERCC8):c.467_468dup (p.Cys157fs) rs2531802219
NM_000082.4(ERCC8):c.482-1G>T
NM_000082.4(ERCC8):c.482-2A>G rs1554073420
NM_000082.4(ERCC8):c.523T>C (p.Ser175Pro) rs2531798461
NM_000082.4(ERCC8):c.547C>T (p.Gln183Ter) rs1748966825
NM_000082.4(ERCC8):c.550+2T>C rs2531798342
NM_000082.4(ERCC8):c.559C>T (p.Gln187Ter) rs2531795554
NM_000082.4(ERCC8):c.572_574del (p.Ala191del) rs2531795499
NM_000082.4(ERCC8):c.592del (p.Tyr198fs) rs2531795414
NM_000082.4(ERCC8):c.611_616del (p.Thr204_Ala205del) rs2112491212
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.668del (p.Cys222_Leu223insTer)
NM_000082.4(ERCC8):c.679del (p.Asp227fs) rs1554073175
NM_000082.4(ERCC8):c.68C>G (p.Ser23Ter)
NM_000082.4(ERCC8):c.718+2T>C
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.797A>C (p.Asp266Ala) rs281875225
NM_000082.4(ERCC8):c.903T>A (p.Cys301Ter) rs1748531932
NM_000082.4(ERCC8):c.928del (p.Val310fs) rs1554072713
NM_000082.4(ERCC8):c.95T>A (p.Leu32Ter) rs1749828987
NM_000082.4(ERCC8):c.968C>G (p.Ser323Ter)
NM_000082.4(ERCC8):c.976C>T (p.Gln326Ter) rs1748527879
NM_000082.4(ERCC8):c.9del (p.Leu5fs)

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