ClinVar Miner

List of variants in gene PMM2 reported as likely benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 33
Download table as spreadsheet
HGVS dbSNP
NM_000303.2(PMM2):c.*1516C>G rs74008088
NM_000303.3(PMM2):c.*1032C>A rs79686490
NM_000303.3(PMM2):c.*10G>A rs200930493
NM_000303.3(PMM2):c.*1259C>G rs78698557
NM_000303.3(PMM2):c.*136A>C rs2075827
NM_000303.3(PMM2):c.*175G>A rs2072688
NM_000303.3(PMM2):c.*17G>A rs9936097
NM_000303.3(PMM2):c.*18C>T rs200464135
NM_000303.3(PMM2):c.*19G>A rs375731567
NM_000303.3(PMM2):c.*252C>A rs2075828
NM_000303.3(PMM2):c.*2G>A rs773232556
NM_000303.3(PMM2):c.*534G>A rs2447929
NM_000303.3(PMM2):c.*560A>G rs2447928
NM_000303.3(PMM2):c.*96G>C rs11554040
NM_000303.3(PMM2):c.*997A>G rs1056898
NM_000303.3(PMM2):c.-15C>G rs202199014
NM_000303.3(PMM2):c.-35A>T rs766596446
NM_000303.3(PMM2):c.324G>A (p.Ala108=) rs62031146
NM_000303.3(PMM2):c.348-19G>A rs1057523353
NM_000303.3(PMM2):c.348-8A>G rs186061775
NM_000303.3(PMM2):c.366C>T (p.Phe122=) rs145714866
NM_000303.3(PMM2):c.384C>T (p.Asn128=) rs147068457
NM_000303.3(PMM2):c.447+22T>A rs137862339
NM_000303.3(PMM2):c.447+4C>T rs537238935
NM_000303.3(PMM2):c.448-20dup rs1555449656
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala) rs34258285
NM_000303.3(PMM2):c.597C>T (p.Asp199=) rs376412367
NM_000303.3(PMM2):c.639+19G>C rs145473288
NM_000303.3(PMM2):c.640-13C>T rs372181885
NM_000303.3(PMM2):c.640-25_640-22dup rs1555453228
NM_000303.3(PMM2):c.66+5G>A
NM_000303.3(PMM2):c.90C>G (p.Asp30Glu) rs201556985
NM_000303.3(PMM2):c.93C>T (p.Phe31=) rs61730638

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.