ClinVar Miner

List of variants in gene COQ2 studied for obsolete Leigh syndrome with nephrotic syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_001358921.2(COQ2):c.744T>C (p.Asp248=) rs6535454 0.74903
NM_001358921.2(COQ2):c.840C>T (p.Ser280=) rs1129617 0.22636
NM_001358921.2(COQ2):c.957C>T (p.Tyr319=) rs141431344 0.00725
NM_001358921.2(COQ2):c.651G>A (p.Ala217=) rs199581249 0.00076
NM_001358921.2(COQ2):c.1044C>T (p.Val348=) rs6834269 0.00057
NM_001358921.2(COQ2):c.310G>A (p.Gly104Ser) rs146983090 0.00054
NM_001358921.2(COQ2):c.808C>T (p.Arg270Trp) rs886059669 0.00048
NM_001358921.2(COQ2):c.625T>C (p.Leu209=) rs367968754 0.00043
NM_001358921.2(COQ2):c.809G>A (p.Arg270Gln) rs200217650 0.00015
NM_001358921.2(COQ2):c.533A>G (p.Asn178Ser) rs121918232 0.00009
NM_001358921.2(COQ2):c.451G>A (p.Ala151Thr) rs372949213 0.00007
NM_001358921.2(COQ2):c.830C>T (p.Pro277Leu) rs374567167 0.00005
NM_001358921.2(COQ2):c.368G>A (p.Arg123His) rs752363398 0.00003
NM_001358921.2(COQ2):c.440G>A (p.Arg147His) rs121918231 0.00003
NM_001358921.2(COQ2):c.912C>T (p.Tyr304=) rs764986740 0.00003
NM_001358921.2(COQ2):c.287G>A (p.Ser96Asn) rs121918233 0.00002
NM_001358921.2(COQ2):c.676G>T (p.Gly226Cys) rs553681443 0.00002
NM_001358921.2(COQ2):c.831G>A (p.Pro277=) rs757390151 0.00002
NM_001358921.2(COQ2):c.885G>A (p.Val295=) rs533968602 0.00002
NM_001358921.2(COQ2):c.889A>T (p.Ser297Cys) rs566845170 0.00002
NM_001358921.2(COQ2):c.491G>A (p.Gly164Glu) rs1208562247 0.00001
NM_001358921.2(COQ2):c.762+14C>A rs587780909 0.00001
NM_001358921.2(COQ2):c.925G>T (p.Ala309Ser) rs771166601 0.00001
NM_001358921.2(COQ2):c.1047del (p.Asn351fs) rs750710187
NM_001358921.2(COQ2):c.1067AGA[1] (p.Lys357del) rs765403087
NM_001358921.2(COQ2):c.254-2A>T
NM_001358921.2(COQ2):c.298G>A (p.Ala100Thr)
NM_001358921.2(COQ2):c.508G>A (p.Ala170Thr) rs1577986966
NM_001358921.2(COQ2):c.542+12G>A rs369421547
NM_001358921.2(COQ2):c.704C>G (p.Pro235Arg) rs1161445886
NM_001358921.2(COQ2):c.740A>G (p.Tyr247Cys) rs121918230
NM_001358921.2(COQ2):c.762+1G>A
NM_001358921.2(COQ2):c.762+1G>T rs767624218
NM_001358921.2(COQ2):c.797C>G (p.Ser266Ter)
NM_001358921.2(COQ2):c.889A>G (p.Ser297Gly)
NM_001358921.2(COQ2):c.962T>A (p.Leu321Gln) rs1397649685

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