ClinVar Miner

List of variants reported as uncertain significance for congenital lactic acidosis, Saguenay-Lac-Saint-Jean type by Baylor Genetics

Included ClinVar conditions (1):
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_133259.4(LRPPRC):c.1295A>G (p.Glu432Gly) rs144732922 0.00091
NM_133259.4(LRPPRC):c.908G>A (p.Arg303His) rs745653250 0.00019
NM_133259.4(LRPPRC):c.4128del (p.Glu1377fs) rs759052246 0.00010
NM_133259.4(LRPPRC):c.295C>T (p.Arg99Cys) rs771473230 0.00009
NM_133259.4(LRPPRC):c.116A>G (p.Tyr39Cys) rs1014582333 0.00007
NM_133259.4(LRPPRC):c.1547C>T (p.Ala516Val) rs1294325794 0.00001
NM_133259.4(LRPPRC):c.289A>G (p.Thr97Ala) rs1674344719
NM_133259.4(LRPPRC):c.338G>T (p.Cys113Phe) rs750132738
NM_133259.4(LRPPRC):c.4078G>T (p.Ala1360Ser) rs147302249
NM_133259.4(LRPPRC):c.695A>C (p.Glu232Ala) rs765911841

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