List of variants in gene BIVM-ERCC5, ERCC5 studied for Xeroderma pigmentosum, group G; Cerebrooculofacioskeletal syndrome 3

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_000123.4(ERCC5):c.641G>A (p.Arg214His)	rs146833751	0.00341
NM_000123.4(ERCC5):c.3239G>A (p.Gly1080Glu)	rs4150388	0.00250
NM_000123.4(ERCC5):c.2818G>A (p.Val940Met)	rs146344855	0.00113
NM_000123.4(ERCC5):c.640C>T (p.Arg214Cys)	rs56255799	0.00086
NM_000123.4(ERCC5):c.3554A>C (p.Lys1185Thr)	rs201911663	0.00022
NM_000123.4(ERCC5):c.1571C>T (p.Pro524Leu)	rs201684551	0.00005
NM_000123.4(ERCC5):c.1039G>T (p.Ala347Ser)	rs759962943	0.00002
NM_000123.4(ERCC5):c.293C>T (p.Ala98Val)	rs375404851	0.00002
NM_000123.4(ERCC5):c.673-2A>G	rs756420203	0.00001

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