ClinVar Miner

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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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: 2

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HGVS	dbSNP	gnomAD frequency
NM_000082.4(ERCC8):c.655G>C (p.Ala219Pro)	rs150727525	0.00131
NM_000082.4(ERCC8):c.1105G>C (p.Val369Leu)	rs543291626

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