ClinVar Miner

List of variants reported as pathogenic for ALG9 congenital disorder of glycosylation by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012463.4(ATP6V0A2):c.78dup (p.Ser27fs) rs745590426 0.00004
NM_012463.4(ATP6V0A2):c.1514+1G>A rs374480381 0.00001
NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter) rs80356750 0.00001
NM_024740.2(ALG9):c.1363C>T (p.Arg455Ter) rs782775735 0.00001
NC_000011.9:g.(?_111657121)_(111922093_?)del
NM_012463.4(ATP6V0A2):c.1062dup (p.Ser355fs) rs958086368
NM_012463.4(ATP6V0A2):c.1604del (p.Pro535fs)
NM_012463.4(ATP6V0A2):c.1605+1G>A rs1956646992
NM_012463.4(ATP6V0A2):c.1831_1832delinsA (p.Val611fs) rs1956686080
NM_012463.4(ATP6V0A2):c.1926C>A (p.Tyr642Ter)
NM_012463.4(ATP6V0A2):c.1945_1946del (p.Gln649fs)
NM_012463.4(ATP6V0A2):c.1994T>A (p.Leu665Ter)
NM_012463.4(ATP6V0A2):c.2015T>A (p.Leu672Ter)
NM_012463.4(ATP6V0A2):c.2203C>T (p.Gln735Ter) rs2135920743
NM_012463.4(ATP6V0A2):c.2304del (p.Asp768fs)
NM_012463.4(ATP6V0A2):c.302T>A (p.Leu101Ter)
NM_012463.4(ATP6V0A2):c.377_378del (p.Ile126fs)
NM_012463.4(ATP6V0A2):c.390_397dup (p.Arg133delinsThrCysTer)
NM_012463.4(ATP6V0A2):c.666G>A (p.Trp222Ter)
NM_012463.4(ATP6V0A2):c.732-2A>G rs80356753
NM_012463.4(ATP6V0A2):c.851del (p.Tyr283_Leu284insTer)
NM_012463.4(ATP6V0A2):c.877G>T (p.Glu293Ter)
NM_024740.2(ALG9):c.1296dup (p.Phe433fs)
NM_024740.2(ALG9):c.744G>A (p.Trp248Ter)
NM_024740.2(ALG9):c.754_757del (p.Phe252fs)
NM_024740.2(ALG9):c.992del (p.Met331fs) rs2136936118

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.