ClinVar Miner

List of variants studied for congenital lactic acidosis, Saguenay-Lac-Saint-Jean type by OMIM

Included ClinVar conditions (1):
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Total variants: 7
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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.1582+7A>G rs863225446 0.00001
LRPPRC, 8-BP DEL, EXON 35
NM_133259.4(LRPPRC):c.2595_2597del (p.Val866del) rs863225444
NM_133259.4(LRPPRC):c.2723AGA[1] (p.Lys909del) rs863225445
NM_133259.4(LRPPRC):c.3147dup (p.Gly1050fs) rs769022521
NM_133259.4(LRPPRC):c.3900+1G>C rs863225443

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