ClinVar Miner

List of variants studied for congenital disorder of glycosylation type I by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
Download table as spreadsheet
NM_000303.3(PMM2):c.324G>A (p.Ala108=) rs62031146
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu) rs80338701
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415
NM_000303.3(PMM2):c.447+19T>C rs11074924
NM_000303.3(PMM2):c.563A>G (p.Asp188Gly) rs80338704
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala) rs34258285
NM_001007027.2(ALG8):c.*272A>G rs1263505
NM_002435.3(MPI):c.10C>T (p.Pro4Ser) rs143982014
NM_002435.3(MPI):c.1131A>G (p.Val377=) rs1130741
NM_002435.3(MPI):c.345+15G>A rs11638130
NM_002435.3(MPI):c.670+9A>G rs7495739
NM_003863.3(DPM2):c.213T>C (p.Tyr71=) rs6781
NM_003863.3(DPM2):c.227C>G (p.Thr76Ser) rs7997
NM_013339.4(ALG6):c.257+5G>A rs199682486
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149
NM_024079.5(ALG8):c.665A>G (p.Asn222Ser) rs665278

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.