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

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_133259.4(LRPPRC):c.1888C>T (p.Leu630=)	rs35881858	0.02080
NM_133259.4(LRPPRC):c.1736-14G>A	rs116117684	0.00552
NM_133259.4(LRPPRC):c.738-18T>C	rs189675905	0.00173
NM_133259.4(LRPPRC):c.1301G>A (p.Gly434Asp)	rs146515622	0.00102
NM_133259.4(LRPPRC):c.1678A>T (p.Ile560Leu)	rs144826521	0.00058
NM_133259.4(LRPPRC):c.74G>A (p.Arg25His)	rs780400922	0.00051
NM_133259.4(LRPPRC):c.4078G>A (p.Ala1360Thr)	rs147302249	0.00041
NM_133259.4(LRPPRC):c.908G>A (p.Arg303His)	rs745653250	0.00019
NM_133259.4(LRPPRC):c.2965C>T (p.Arg989Cys)	rs199706677	0.00013
NM_133259.4(LRPPRC):c.109G>T (p.Ala37Ser)	rs763948159	0.00006
NM_133259.4(LRPPRC):c.2904C>T (p.Asn968=)	rs1052539943	0.00004
NM_133259.4(LRPPRC):c.3277G>A (p.Ala1093Thr)	rs200611889	0.00004
NM_133259.4(LRPPRC):c.4177T>G (p.Ser1393Ala)	rs139493671	0.00004
NM_133259.4(LRPPRC):c.515A>G (p.Tyr172Cys)	rs187584458	0.00003
NM_133259.4(LRPPRC):c.2079+10G>A	rs545497810	0.00002
NM_133259.4(LRPPRC):c.2326G>T (p.Glu776Ter)	rs758615834	0.00001
NM_133259.4(LRPPRC):c.650+1G>C	rs1249427615	0.00001
NM_133259.4(LRPPRC):c.808T>C (p.Tyr270His)	rs946957597

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