ClinVar Miner

List of variants reported for Coenzyme Q10 deficiency, primary, 1; Multiple system atrophy 1, susceptibility to by Fulgent Genetics, Fulgent Genetics

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_001358921.2(COQ2):c.957C>T (p.Tyr319=) rs141431344 0.00725
NM_015697.9(COQ2):c.30G>A (p.Arg10_Lys11=) rs183012002 0.00375
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.136C>T (p.Pro46Ser) rs767013819 0.00029
NM_001358921.2(COQ2):c.11C>G (p.Ser4Trp) rs376396608 0.00016
NM_001358921.2(COQ2):c.809G>A (p.Arg270Gln) rs200217650 0.00015
NM_001358921.2(COQ2):c.451G>A (p.Ala151Thr) rs372949213 0.00007
NM_001358921.2(COQ2):c.232A>G (p.Met78Val) rs778094136 0.00006
NM_001358921.2(COQ2):c.830C>T (p.Pro277Leu) rs374567167 0.00005
NM_015697.9(COQ2):c.34G>C (p.Gly12Arg) rs981288139 0.00004
NM_015697.9(COQ2):c.57G>T (p.Gln19His) rs764905680 0.00004
NM_015697.9(COQ2):c.94G>A (p.Ala32Thr) rs770651250 0.00004
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.182C>T (p.Ala61Val) rs1233395596 0.00002
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.165G>C (p.Gln55His) rs747231025 0.00001
NM_001358921.2(COQ2):c.762+14C>A rs587780909 0.00001
NM_001358921.2(COQ2):c.89C>T (p.Ala30Val) rs942463668 0.00001
NM_001358921.2(COQ2):c.925G>T (p.Ala309Ser) rs771166601 0.00001
NM_015697.9(COQ2):c.83C>A (p.Ala28Glu) rs371993270 0.00001
NM_001358921.2(COQ2):c.-2C>G rs573669024
NM_001358921.2(COQ2):c.1067AGA[1] (p.Lys357del) rs765403087
NM_001358921.2(COQ2):c.227G>A (p.Arg76His) rs863223935
NM_001358921.2(COQ2):c.542+12G>A rs369421547
NM_001358921.2(COQ2):c.71G>A (p.Trp24Ter) rs2126177139
NM_015697.9(COQ2):c.64A>T (p.Arg22Ter) rs112033303

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