ClinVar Miner

List of variants reported as uncertain significance for congenital lactic acidosis, Saguenay-Lac-Saint-Jean type by Natera, Inc.

Included ClinVar conditions (1):
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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_133259.4(LRPPRC):c.3275+7G>A rs111392631 0.00152
NM_133259.4(LRPPRC):c.1301G>A (p.Gly434Asp) rs146515622 0.00102
NM_133259.4(LRPPRC):c.1295A>G (p.Glu432Gly) rs144732922 0.00091
NM_133259.4(LRPPRC):c.1426A>G (p.Thr476Ala) rs115507225 0.00066
NM_133259.4(LRPPRC):c.1678A>T (p.Ile560Leu) rs144826521 0.00058
NM_133259.4(LRPPRC):c.2020G>A (p.Glu674Lys) rs149243712 0.00039
NM_133259.4(LRPPRC):c.620A>T (p.Tyr207Phe) rs146293544 0.00022
NM_133259.4(LRPPRC):c.908G>A (p.Arg303His) rs745653250 0.00019
NM_133259.4(LRPPRC):c.141C>G (p.Pro47=) rs559176918 0.00016
NM_133259.4(LRPPRC):c.4128del (p.Glu1377fs) rs759052246 0.00010
NM_133259.4(LRPPRC):c.3586G>A (p.Ala1196Thr) rs142097048 0.00009
NM_133259.4(LRPPRC):c.4056T>A (p.Asp1352Glu) rs146630100 0.00007
NM_133259.4(LRPPRC):c.802G>C (p.Asp268His) rs756849117 0.00007
NM_133259.4(LRPPRC):c.109G>T (p.Ala37Ser) rs763948159 0.00006
NM_133259.4(LRPPRC):c.1211C>A (p.Ser404Tyr) rs148016991 0.00006
NM_133259.4(LRPPRC):c.3666C>T (p.Phe1222=) rs145105621 0.00006
NM_133259.4(LRPPRC):c.2141A>G (p.Tyr714Cys) rs375559765 0.00005
NM_133259.4(LRPPRC):c.3855G>C (p.Pro1285=) rs571550652 0.00004
NM_133259.4(LRPPRC):c.3935C>G (p.Pro1312Arg) rs747154844 0.00004
NM_133259.4(LRPPRC):c.3999T>C (p.Asp1333=) rs202177904 0.00004
NM_133259.4(LRPPRC):c.1219C>G (p.Leu407Val) rs368164663 0.00003
NM_133259.4(LRPPRC):c.442A>C (p.Arg148=) rs138378033 0.00003
NM_133259.4(LRPPRC):c.1578A>G (p.Ser526=) rs775445022 0.00002
NM_133259.4(LRPPRC):c.2072C>T (p.Ser691Leu) rs372341254 0.00002
NM_133259.4(LRPPRC):c.1236T>C (p.His412=) rs764634151 0.00001
NM_133259.4(LRPPRC):c.1649+8G>A rs370119141 0.00001
NM_133259.4(LRPPRC):c.1765A>T (p.Ile589Phe) rs760086210 0.00001
NM_133259.4(LRPPRC):c.1998C>T (p.Ser666=) rs1421341249 0.00001
NM_133259.4(LRPPRC):c.3673G>C (p.Val1225Leu) rs776488880 0.00001
NM_133259.4(LRPPRC):c.1253A>C (p.Asn418Thr) rs373908553
NM_133259.4(LRPPRC):c.1299A>G (p.Glu433=) rs1673918352
NM_133259.4(LRPPRC):c.1390G>C (p.Gly464Arg) rs957783084
NM_133259.4(LRPPRC):c.1706G>A (p.Arg569His) rs762974687
NM_133259.4(LRPPRC):c.2039A>T (p.Asp680Val) rs863224056
NM_133259.4(LRPPRC):c.217A>G (p.Thr73Ala) rs1674350152
NM_133259.4(LRPPRC):c.2966G>C (p.Arg989Pro) rs774857058
NM_133259.4(LRPPRC):c.348T>C (p.Gly116=) rs1674229974
NM_133259.4(LRPPRC):c.4078G>T (p.Ala1360Ser) rs147302249
NM_133259.4(LRPPRC):c.592_603del
NM_133259.4(LRPPRC):c.676A>G (p.Lys226Glu) rs1674047513
NM_133259.4(LRPPRC):c.7G>A (p.Ala3Thr) rs200686732
NM_133259.4(LRPPRC):c.808T>C (p.Tyr270His) rs946957597

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