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

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Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 17

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HGVS	dbSNP
NM_000082.3(ERCC8):c.1042-1G>A	rs897535441
NM_000082.3(ERCC8):c.1042-1G>C	rs897535441
NM_000082.3(ERCC8):c.1042-2A>G	rs372237310
NM_000082.3(ERCC8):c.1122+1G>A	rs1482664387
NM_000082.3(ERCC8):c.173+1G>A	rs1476095782
NM_000082.3(ERCC8):c.276-2A>G	rs1554074597
NM_000082.3(ERCC8):c.300C>G (p.Tyr100Ter)	rs143367518
NM_000082.3(ERCC8):c.399+1G>A	rs774047625
NM_000082.3(ERCC8):c.482-2A>G	rs1554073420
NM_000082.3(ERCC8):c.600dup (p.Ile201fs)	rs1468231556
NM_000082.3(ERCC8):c.647_651dup (p.Arg218Ter)	rs1554073177
NM_000082.3(ERCC8):c.679del (p.Asp227fs)	rs1554073175
NM_000082.3(ERCC8):c.719-2A>G	rs1554073117
NM_000082.3(ERCC8):c.719-2A>T	rs1554073117
NM_000082.3(ERCC8):c.77+2T>G	rs1554076239
NM_000082.3(ERCC8):c.843+1G>T	rs1305258765
NM_000082.3(ERCC8):c.928del (p.Val310fs)	rs1554072713

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