ClinVar Miner

List of variants in gene PMM2 reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP
GRCh37/hg19 16p13.2(chr16:8903059-8933005)x1
NM_000303.3(PMM2):c.200T>G (p.Val67Gly) rs751986971
NM_000303.3(PMM2):c.306C>T (p.Tyr102=)
NM_000303.3(PMM2):c.337C>T (p.Pro113Ser) rs765433263
NM_000303.3(PMM2):c.339G>A (p.Pro113=) rs149849259
NM_000303.3(PMM2):c.352A>G (p.Thr118Ala) rs886043289
NM_000303.3(PMM2):c.389C>G (p.Ser130Cys) rs886044305
NM_000303.3(PMM2):c.399A>G (p.Gly133=) rs886043741
NM_000303.3(PMM2):c.408C>T (p.Cys136=) rs371694616
NM_000303.3(PMM2):c.426T>G (p.Ile142Met) rs781610241
NM_000303.3(PMM2):c.441C>G (p.Leu147=) rs146990448
NM_000303.3(PMM2):c.441C>T (p.Leu147=) rs146990448
NM_000303.3(PMM2):c.61C>T (p.Arg21Trp) rs758340382
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser) rs78290141
NM_000303.3(PMM2):c.657G>C (p.Glu219Asp) rs144040842
NM_000303.3(PMM2):c.686A>C (p.Tyr229Ser) rs398123311
NM_000303.3(PMM2):c.693G>A (p.Val231=) rs761946981
NM_000303.3(PMM2):c.713G>A (p.Arg238His) rs151319324
NM_000303.3(PMM2):c.90C>G (p.Asp30Glu) rs201556985
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu) rs749720760

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.