ClinVar Miner

List of variants in gene LRPPRC reported as benign for Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

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Total variants: 28
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HGVS dbSNP
NM_133259.4(LRPPRC):c.*1088G>C rs79225555
NM_133259.4(LRPPRC):c.*1335T>C rs76970610
NM_133259.4(LRPPRC):c.*1343G>C rs75002669
NM_133259.4(LRPPRC):c.*1371C>T rs111381413
NM_133259.4(LRPPRC):c.*1665C>T rs1139250
NM_133259.4(LRPPRC):c.*2041C>T rs7581308
NM_133259.4(LRPPRC):c.*2176A>T rs73924082
NM_133259.4(LRPPRC):c.*556A>T rs1136998
NM_133259.4(LRPPRC):c.*734A>G
NM_133259.4(LRPPRC):c.*825A>G rs17031753
NM_133259.4(LRPPRC):c.-11A>G rs188424940
NM_133259.4(LRPPRC):c.1068A>G (p.Gln356=) rs4953042
NM_133259.4(LRPPRC):c.1432A>G (p.Thr478Ala) rs35035668
NM_133259.4(LRPPRC):c.1491A>T (p.Glu497Asp) rs571886021
NM_133259.4(LRPPRC):c.1529C>G (p.Ala510Gly) rs115693730
NM_133259.4(LRPPRC):c.1677+11C>G rs58811869
NM_133259.4(LRPPRC):c.1888C>T (p.Leu630=) rs35881858
NM_133259.4(LRPPRC):c.2325A>G (p.Lys775=) rs139634347
NM_133259.4(LRPPRC):c.246G>A (p.Gln82=) rs6741066
NM_133259.4(LRPPRC):c.2481A>G (p.Pro827=) rs115993634
NM_133259.4(LRPPRC):c.2562A>G (p.Val854=) rs4494798
NM_133259.4(LRPPRC):c.3570-3C>T rs35113761
NM_133259.4(LRPPRC):c.3595A>G (p.Asn1199Asp) rs113974315
NM_133259.4(LRPPRC):c.3900+14C>T rs3795859
NM_133259.4(LRPPRC):c.3900+15C>T rs76850904
NM_133259.4(LRPPRC):c.41C>G (p.Ala14Gly) rs114205971
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val) rs181626399
NM_133259.4(LRPPRC):c.79C>T (p.Leu27Phe) rs116727742

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