List of variants in gene ERCC1 studied for COFS syndrome

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_001983.4(ERCC1):c.843+32G>A	rs116640350	0.00729
NM_001983.4(ERCC1):c.796G>A (p.Ala266Thr)	rs3212977	0.00150
NM_001983.4(ERCC1):c.191C>T (p.Ala64Val)	rs142631483	0.00045
NM_001983.4(ERCC1):c.799T>C (p.Ser267Pro)	rs146256515	0.00009
NM_001983.4(ERCC1):c.121C>T (p.Arg41Ter)	rs867518898	0.00001
NM_001983.4(ERCC1):c.184G>T (p.Glu62Ter)	rs150584960
NM_001983.4(ERCC1):c.231del (p.Thr78fs)	rs2123520960
NM_001983.4(ERCC1):c.467G>A (p.Arg156Gln)
NM_001983.4(ERCC1):c.472C>T (p.Gln158Ter)	rs121913027
NM_001983.4(ERCC1):c.693C>G (p.Phe231Leu)	rs121913028

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