List of variants in gene ERCC6, LOC126860933 studied for Cockayne syndrome type 2

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: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000124.4(ERCC6):c.2751C>T (p.Gly917=)	rs2229760	0.31596
NM_000124.4(ERCC6):c.2825C>T (p.Thr942Met)	rs2228525	0.01573
NM_000124.4(ERCC6):c.2875G>T (p.Val959Leu)	rs190863815	0.00075
NM_000124.4(ERCC6):c.2741C>T (p.Thr914Met)	rs142580756	0.00052
NM_000124.4(ERCC6):c.2829+11A>T	rs777251839	0.00005
NM_000124.4(ERCC6):c.2776G>C (p.Ala926Pro)	rs765252538	0.00002
NM_000124.4(ERCC6):c.2923C>T (p.Arg975Ter)	rs772801089	0.00002
NM_000124.4(ERCC6):c.2830-2A>G	rs373227647	0.00001
NM_000124.4(ERCC6):c.2796T>A (p.Tyr932Ter)
NM_000124.4(ERCC6):c.2800C>A (p.Pro934Thr)	rs1554875536
NM_000124.4(ERCC6):c.2807G>A (p.Trp936Ter)	rs1283213117
NM_000124.4(ERCC6):c.2828A>C (p.Gln943Pro)
NM_000124.4(ERCC6):c.2846G>A (p.Trp949Ter)	rs1850797541
NM_000124.4(ERCC6):c.2881_2882insTCTTCGT (p.Arg961fs)
NM_000124.4(ERCC6):c.2905G>A (p.Glu969Lys)	rs886047035

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.