ClinVar Miner

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

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_133259.4(LRPPRC):c.*1088G>C rs79225555
NM_133259.4(LRPPRC):c.*1335T>C rs76970610
NM_133259.4(LRPPRC):c.*2176A>T rs73924082
NM_133259.4(LRPPRC):c.*556A>T rs1136998
NM_133259.4(LRPPRC):c.*825A>G rs17031753
NM_133259.4(LRPPRC):c.1432A>G (p.Thr478Ala) rs35035668
NM_133259.4(LRPPRC):c.1677+11C>G rs58811869
NM_133259.4(LRPPRC):c.1888C>T (p.Leu630=) rs35881858
NM_133259.4(LRPPRC):c.2325A>G (p.Lys775=) rs139634347
NM_133259.4(LRPPRC):c.2562A>G (p.Val854=) rs4494798
NM_133259.4(LRPPRC):c.3595A>G (p.Asn1199Asp) rs113974315
NM_133259.4(LRPPRC):c.3900+15C>T rs76850904
NM_133259.4(LRPPRC):c.41C>G (p.Ala14Gly) rs114205971

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