List of variants in gene ERCC6, ERCC6-PGBD3 studied for Cerebrooculofacioskeletal syndrome 1

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000124.4(ERCC6):c.-107A>G	rs886047042	0.00004
NM_000124.4(ERCC6):c.595C>G (p.Leu199Val)	rs886047039	0.00001
NM_000124.4(ERCC6):c.958G>C (p.Val320Leu)	rs1218964618	0.00001
NM_000124.4(ERCC6):c.1004del (p.Leu335fs)	rs1554793305
NM_000124.4(ERCC6):c.289G>A (p.Val97Met)	rs1837497957

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