ClinVar Miner

List of variants in gene LRPPRC reported as likely benign for Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
Download table as spreadsheet
HGVS dbSNP
NM_133259.4(LRPPRC):c.*1564G>A rs142436911
NM_133259.4(LRPPRC):c.*1961T>C rs541683193
NM_133259.4(LRPPRC):c.114C>T (p.Ser38=) rs886056063
NM_133259.4(LRPPRC):c.135C>T (p.Ala45=) rs886056061
NM_133259.4(LRPPRC):c.1419T>C (p.Asp473=) rs886056057
NM_133259.4(LRPPRC):c.1488+8C>G rs772715775
NM_133259.4(LRPPRC):c.1630C>T (p.Leu544=) rs1352013098
NM_133259.4(LRPPRC):c.1649+11C>T rs200115839
NM_133259.4(LRPPRC):c.1841T>C (p.Met614Thr) rs374400665
NM_133259.4(LRPPRC):c.1928A>G (p.His643Arg) rs148575027
NM_133259.4(LRPPRC):c.1929C>T (p.His643=) rs200017171
NM_133259.4(LRPPRC):c.2118A>G (p.Glu706=) rs118188415
NM_133259.4(LRPPRC):c.2385C>T (p.Gly795=) rs886056056
NM_133259.4(LRPPRC):c.276T>C (p.Leu92=) rs187590711
NM_133259.4(LRPPRC):c.2904C>T (p.Asn968=) rs1052539943
NM_133259.4(LRPPRC):c.3148+12C>T rs199684766
NM_133259.4(LRPPRC):c.4074T>C (p.Arg1358=) rs746573924
NM_133259.4(LRPPRC):c.4078G>A (p.Ala1360Thr) rs147302249
NM_133259.4(LRPPRC):c.42C>T (p.Ala14=) rs1572599036
NM_133259.4(LRPPRC):c.582A>G (p.Gln194=) rs148494289
NM_133259.4(LRPPRC):c.58C>T (p.Leu20Phe) rs184339274
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val) rs181626399
NM_133259.4(LRPPRC):c.864+11T>G rs193090896
NM_133259.4(LRPPRC):c.96C>T (p.Gly32=) rs886056064

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.