ClinVar Miner

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

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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ERCC8, 279-BP DEL, 81-BP DEL
NM_000082.3(ERCC8):c.1042-1G>A rs897535441
NM_000082.3(ERCC8):c.1042-2A>G rs372237310
NM_000082.3(ERCC8):c.173+1119G>C rs1043679457
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.479C>T (p.Ala160Val) rs121434325
NM_000082.3(ERCC8):c.551-1G>A rs1554073316
NM_000082.3(ERCC8):c.613G>C (p.Ala205Pro) rs121434326
NM_000082.3(ERCC8):c.618-1G>A rs201464610
NM_000082.3(ERCC8):c.769G>A (p.Gly257Arg) rs770499406
NM_000082.3(ERCC8):c.78-2A>T rs748379243
NM_000082.3(ERCC8):c.966C>A (p.Tyr322Ter) rs121434323
NM_001007233.2(ERCC8):c.-252del rs786205176
NM_001290285.1(ERCC8):c.-65_-64del rs1404477615
NM_001290285.1(ERCC8):c.-83_-81delinsTG rs1131691783

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