ClinVar Miner

List of variants in gene ERCC8 reported as likely pathogenic for Cockayne syndrome type 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
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.1042-1G>A rs897535441 0.00001
NM_000082.4(ERCC8):c.1042-2A>G rs372237310 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.600dup (p.Ile201fs) rs1468231556 0.00001
NM_000082.4(ERCC8):c.769G>A (p.Gly257Arg) rs770499406 0.00001
NM_000082.4(ERCC8):c.843+1G>T rs1305258765 0.00001
NM_000082.4(ERCC8):c.1042-1G>C rs897535441
NM_000082.4(ERCC8):c.182C>G (p.Ser61Ter) rs1749618632
NM_000082.4(ERCC8):c.274dup (p.Arg92fs)
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)
NM_000082.4(ERCC8):c.482-2A>G rs1554073420
NM_000082.4(ERCC8):c.523T>C (p.Ser175Pro)
NM_000082.4(ERCC8):c.559C>T (p.Gln187Ter)
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.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.976C>T (p.Gln326Ter) rs1748527879

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