ClinVar Miner

List of variants in gene GNPAT reported as benign for disorder of plasmalogens biosynthesis

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014236.4(GNPAT):c.915G>A (p.Glu305=) rs574553 0.58786
NM_014236.4(GNPAT):c.-44C>T rs518686 0.54529
NM_014236.4(GNPAT):c.1556A>G (p.Asp519Gly) rs11558492 0.15938
NM_014236.4(GNPAT):c.26C>T (p.Ser9Phe) rs113480953 0.01765
NM_014236.4(GNPAT):c.1483G>A (p.Val495Ile) rs11122266 0.01237
NM_014236.4(GNPAT):c.-84C>T rs112452735 0.01229
NM_014236.4(GNPAT):c.1479C>T (p.Ser493=) rs35033351 0.01197
NM_014236.4(GNPAT):c.925-17del rs149282848 0.01076
NM_014236.4(GNPAT):c.525A>G (p.Leu175=) rs6659098 0.01020
NM_014236.4(GNPAT):c.555A>T (p.Ile185=) rs34613633 0.00339
NM_014236.4(GNPAT):c.1308G>A (p.Pro436=) rs151138534 0.00005
NM_014236.4(GNPAT):c.*18T>C rs150776112
NM_014236.4(GNPAT):c.569-11del rs199905093

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.