ClinVar Miner

List of variants reported as uncertain significance for COFS syndrome by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (12):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001983.4(ERCC1):c.799T>C (p.Ser267Pro)	rs146256515	0.00009
NM_000124.4(ERCC6):c.1681T>G (p.Tyr561Asp)	rs1564430115
NM_000400.4(ERCC2):c.1887G>C (p.Gln629His)	rs200665173

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