ClinVar Miner

List of variants in gene PYGM reported as benign by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005609.3(PYGM):c.-381T>C rs483962 0.20383
NM_005609.4(PYGM):c.1827+7A>G rs532747 0.10554
NM_005609.4(PYGM):c.1494C>T (p.Pro498=) rs11231865 0.03592
NM_005609.4(PYGM):c.1184C>T (p.Thr395Met) rs71581787 0.01778
NM_005609.4(PYGM):c.1569C>G (p.Leu523=) rs114138772 0.01217
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val) rs61736659 0.00065
NM_005609.4(PYGM):c.-76A>G rs139467558 0.00015
NM_005609.4(PYGM):c.1240C>G (p.Arg414Gly) rs11231866
NM_005609.4(PYGM):c.661-5C>G rs75633423

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.