ClinVar Miner

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

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Total variants: 10
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HGVS dbSNP
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.1677+7C>T rs374995996
NM_133259.4(LRPPRC):c.1921-7A>G
NM_133259.4(LRPPRC):c.2056A>G (p.Ile686Val)
NM_133259.4(LRPPRC):c.7G>A (p.Ala3Thr) rs200686732

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