List of variants in gene ERCC8 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000082.4(ERCC8):c.839C>A (p.Thr280Lys)	rs61754098	0.00199
NM_000082.4(ERCC8):c.655G>C (p.Ala219Pro)	rs150727525	0.00131
NM_000082.4(ERCC8):c.1012G>A (p.Asp338Asn)	rs141845482	0.00063
NM_000082.4(ERCC8):c.99T>C (p.Asn33=)	rs779993885	0.00002
NM_000082.4(ERCC8):c.593_594dup (p.Asp199fs)	rs1748929695
NM_000082.4(ERCC8):c.600T>A (p.Tyr200Ter)	rs1554073309

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