List of variants in gene ERCC6 reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_000124.4(ERCC6):c.1821+7C>T	rs4253132	0.84443
NM_000124.4(ERCC6):c.135C>G (p.Leu45=)	rs2228524	0.62551
NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly)	rs2228527	0.19565
NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val)	rs2228526	0.19072
NM_000124.4(ERCC6):c.4238A>G (p.Gln1413Arg)	rs2228529	0.18890
NM_000124.4(ERCC6):c.411G>A (p.Leu137=)	rs4253013	0.09896
NM_000124.4(ERCC6):c.528A>G (p.Arg176=)	rs4253027	0.01480
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter)	rs121917901	0.00005

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