ClinVar Miner

List of variants reported as pathogenic for Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type by Baylor Genetics

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_133259.4(LRPPRC):c.1061C>T (p.Ala354Val) rs119466000 0.00001
NM_133259.4(LRPPRC):c.864+2T>C rs863224053 0.00001
NM_133259.4(LRPPRC):c.1431T>G (p.Tyr477Ter) rs746627889
NM_133259.4(LRPPRC):c.3147dup (p.Gly1050fs) rs769022521
NM_133259.4(LRPPRC):c.3900+1G>C rs863225443
NM_133259.4(LRPPRC):c.4077C>G (p.Tyr1359Ter) rs148828179

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