ClinVar Miner

List of variants in gene LRPPRC reported as likely benign for Leigh syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_133259.4(LRPPRC):c.*1564G>A rs142436911
NM_133259.4(LRPPRC):c.*1961T>C rs541683193
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.1649+11C>T rs200115839
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.3148+12C>T rs199684766
NM_133259.4(LRPPRC):c.4078G>A (p.Ala1360Thr) rs147302249
NM_133259.4(LRPPRC):c.864+11T>G rs193090896
NM_133259.4(LRPPRC):c.96C>T (p.Gly32=) rs886056064

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