ClinVar Miner

List of variants in gene ERCC6 reported as likely pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000124.4(ERCC6):c.2287-2A>G rs754978734 0.00002
NM_000124.4(ERCC6):c.422+1G>A rs1198472093 0.00002
NM_000124.4(ERCC6):c.1398-2A>G rs1317145066 0.00001
NM_000124.4(ERCC6):c.1526+1G>T rs371739894 0.00001
NM_000124.4(ERCC6):c.1821+1G>A rs1228919836 0.00001
NM_000124.4(ERCC6):c.1822-2A>G rs1157288312 0.00001
NC_000010.10:g.(?_50678642)_(50681513_?)del
NM_000124.4(ERCC6):c.1398-3_1398del
NM_000124.4(ERCC6):c.1527-1G>T
NM_000124.4(ERCC6):c.2009G>A (p.Arg670Gln)
NM_000124.4(ERCC6):c.2169+1G>A rs1441655600
NM_000124.4(ERCC6):c.2383-1G>T rs1554787554
NM_000124.4(ERCC6):c.2598+1G>C
NM_000124.4(ERCC6):c.2599-1G>C rs2132541141
NM_000124.4(ERCC6):c.2925-2A>T
NM_000124.4(ERCC6):c.3070+1G>A rs748423645
NM_000124.4(ERCC6):c.3070+2T>C
NM_000124.4(ERCC6):c.3071-2A>G
NM_000124.4(ERCC6):c.3779-1G>A
NM_000124.4(ERCC6):c.3983+1G>C
NM_000124.4(ERCC6):c.3983+2T>A
NM_000124.4(ERCC6):c.3984-10_3995del
NM_000124.4(ERCC6):c.3984-2A>G rs1554873973
NM_000124.4(ERCC6):c.4115del (p.Gly1372fs) rs2132523961
NM_000124.4(ERCC6):c.422+1G>C rs1198472093
NM_000124.4(ERCC6):c.423-1G>A rs1364973121
NM_000124.4(ERCC6):c.423-2A>C
NM_000124.4(ERCC6):c.423-2A>G rs2132635786
NM_000124.4(ERCC6):c.653-2A>G rs1837271887

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.