ClinVar Miner

List of variants reported as uncertain significance for multiple system atrophy 1, susceptibility to by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 67
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HGVS dbSNP gnomAD frequency
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.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.254-5C>G rs776701765 0.00013
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.182C>T (p.Ala61Val) rs1233395596 0.00002
NM_001358921.2(COQ2):c.317T>C (p.Phe106Ser) rs370683088 0.00002
NM_001358921.2(COQ2):c.676G>T (p.Gly226Cys) rs553681443 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.800C>T (p.Thr267Met) rs761785906 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.-21C>A
NM_001358921.2(COQ2):c.-23C>T
NM_001358921.2(COQ2):c.-26G>C
NM_001358921.2(COQ2):c.-2C>G rs573669024
NM_001358921.2(COQ2):c.-30del rs1418018696
NM_001358921.2(COQ2):c.-33T>C
NM_001358921.2(COQ2):c.-8C>G
NM_001358921.2(COQ2):c.1067AGA[1] (p.Lys357del) rs765403087
NM_001358921.2(COQ2):c.1093A>G (p.Ile365Val)
NM_001358921.2(COQ2):c.1093A>T (p.Ile365Leu)
NM_001358921.2(COQ2):c.112C>T (p.Pro38Ser)
NM_001358921.2(COQ2):c.148G>A (p.Glu50Lys)
NM_001358921.2(COQ2):c.14G>T (p.Arg5Leu)
NM_001358921.2(COQ2):c.161G>C (p.Arg54Pro)
NM_001358921.2(COQ2):c.181G>A (p.Ala61Thr)
NM_001358921.2(COQ2):c.190G>C (p.Val64Leu)
NM_001358921.2(COQ2):c.218C>T (p.Pro73Leu)
NM_001358921.2(COQ2):c.227G>A (p.Arg76His) rs863223935
NM_001358921.2(COQ2):c.274C>G (p.Pro92Ala)
NM_001358921.2(COQ2):c.277T>C (p.Cys93Arg)
NM_001358921.2(COQ2):c.290T>C (p.Ile97Thr)
NM_001358921.2(COQ2):c.349A>T (p.Thr117Ser)
NM_001358921.2(COQ2):c.494G>A (p.Gly165Glu)
NM_001358921.2(COQ2):c.4C>A (p.Leu2Met)
NM_001358921.2(COQ2):c.542+5A>G
NM_001358921.2(COQ2):c.629-7A>G
NM_001358921.2(COQ2):c.650C>T (p.Ala217Val)
NM_001358921.2(COQ2):c.750T>G (p.Ile250Met)
NM_001358921.2(COQ2):c.799A>G (p.Thr267Ala)
NM_001358921.2(COQ2):c.80G>A (p.Arg27His)
NM_001358921.2(COQ2):c.814G>A (p.Gly272Arg)
NM_001358921.2(COQ2):c.829C>T (p.Pro277Ser)
NM_001358921.2(COQ2):c.838A>C (p.Ser280Arg)
NM_001358921.2(COQ2):c.841G>A (p.Gly281Ser)
NM_001358921.2(COQ2):c.842G>T (p.Gly281Val)
NM_001358921.2(COQ2):c.856A>G (p.Met286Val)
NM_001358921.2(COQ2):c.884T>G (p.Val295Gly)
NM_001358921.2(COQ2):c.925G>A (p.Ala309Thr)
NM_001358921.2(COQ2):c.954T>G (p.Ile318Met)
NM_015697.9(COQ2):c.30G>C (p.Arg10Ser)
NM_015697.9(COQ2):c.34G>A (p.Gly12Ser) rs981288139
NM_015697.9(COQ2):c.40G>A (p.Ala14Thr)
NM_015697.9(COQ2):c.40G>T (p.Ala14Ser)
NM_015697.9(COQ2):c.48dup (p.Ala17fs) rs767298430
NM_015697.9(COQ2):c.79C>G (p.Pro27Ala)

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