ClinVar Miner

List of variants studied for PMM2-CDG by Integrated Genetics/Laboratory Corporation of America

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP
NM_000303.2(PMM2):c.24delC (p.Cys9Alafs) rs768021123
NM_000303.2(PMM2):c.255+1G>A rs1060499598
NM_000303.2(PMM2):c.255+2T>C rs139716296
NM_000303.2(PMM2):c.256-1G>C
NM_000303.2(PMM2):c.26G>A (p.Cys9Tyr) rs104894532
NM_000303.2(PMM2):c.357C>A (p.Phe119Leu) rs80338701
NM_000303.2(PMM2):c.368G>A (p.Arg123Gln) rs141498002
NM_000303.2(PMM2):c.385G>A (p.Val129Met) rs104894525
NM_000303.2(PMM2):c.415G>A (p.Glu139Lys) rs80338703
NM_000303.2(PMM2):c.422G>A (p.Arg141His) rs28936415
NM_000303.2(PMM2):c.470T>C (p.Phe157Ser) rs190521996
NM_000303.2(PMM2):c.580C>T (p.Arg194Ter) rs199562225
NM_000303.2(PMM2):c.623G>C (p.Gly208Ala) rs398123309
NM_000303.2(PMM2):c.691G>A (p.Val231Met) rs80338707
NM_000303.2(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000303.2(PMM2):c.722G>C (p.Cys241Ser) rs80338709
NM_000303.2(PMM2):c.95_96delTAinsGC (p.Leu32Arg) rs398123312
NM_000303.3(PMM2):c.109C>T (p.Gln37Ter)
NM_000303.3(PMM2):c.392del (p.Pro131Leufs) rs1555449607
NM_000303.3(PMM2):c.640-9T>G
NM_000303.3(PMM2):c.66+1G>T

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.