ClinVar Miner

List of variants in gene LRPPRC reported as uncertain significance for Leigh syndrome

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_133259.4(LRPPRC):c.1677+7C>T rs374995996 0.00002
NM_133259.4(LRPPRC):c.2056A>G (p.Ile686Val) rs750526576 0.00002
NM_133259.4(LRPPRC):c.1921-7A>G rs779696239 0.00001
NM_133259.4(LRPPRC):c.*1387_*1390dup rs886056048
NM_133259.4(LRPPRC):c.*1435del rs886056047
NM_133259.4(LRPPRC):c.*1445_*1456dup rs57494476
NM_133259.4(LRPPRC):c.*1449_*1456dup rs57494476
NM_133259.4(LRPPRC):c.*2048dup rs546907287
NM_133259.4(LRPPRC):c.1156-13dup rs747766605
NM_133259.4(LRPPRC):c.121C>T (p.Pro41Ser) rs908473003
NM_133259.4(LRPPRC):c.7G>A (p.Ala3Thr) rs200686732

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