ClinVar Miner

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

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Total variants: 19
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HGVS dbSNP
ERCC8, 279-BP DEL, 81-BP DEL
NM_000082.3(ERCC8):c.1042-1G>A rs897535441
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.481G>A (p.Val161Ile) rs148393161
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_000082.4(ERCC8):c.173+1119G>C rs1043679457
NM_000082.4(ERCC8):c.202A>T (p.Ile68Phe)
NM_000082.4(ERCC8):c.317_320dupAGTG rs1580023012
NM_000082.4(ERCC8):c.481+1G>C rs1580007152
NM_000082.4(ERCC8):c.802C>T (p.Arg268Ter)
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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