ClinVar Miner

List of variants studied for multiple system atrophy 1, susceptibility to

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 94
Download table as spreadsheet
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=) 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.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.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.317T>C (p.Phe106Ser) rs370683088 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.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.-16del
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.1047del (p.Asn351fs) rs750710187
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.138dup (p.Ala47fs) rs759310292
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.211del (p.Leu71fs)
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.395T>G (p.Met132Arg) rs1057519348
NM_001358921.2(COQ2):c.439C>T (p.Arg147Cys)
NM_001358921.2(COQ2):c.494G>A (p.Gly165Glu)
NM_001358921.2(COQ2):c.4C>A (p.Leu2Met)
NM_001358921.2(COQ2):c.508del (p.Ala170fs)
NM_001358921.2(COQ2):c.542+12G>A rs369421547
NM_001358921.2(COQ2):c.542+1G>A
NM_001358921.2(COQ2):c.542+5A>G
NM_001358921.2(COQ2):c.543-4_543del
NM_001358921.2(COQ2):c.629-7A>G
NM_001358921.2(COQ2):c.650C>T (p.Ala217Val)
NM_001358921.2(COQ2):c.71G>A (p.Trp24Ter) rs2126177139
NM_001358921.2(COQ2):c.73_99delinsAAGGA (p.Arg25fs)
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.909C>A (p.Tyr303Ter)
NM_001358921.2(COQ2):c.925G>A (p.Ala309Thr)
NM_001358921.2(COQ2):c.954T>G (p.Ile318Met)
NM_001358921.2(COQ2):c.967del (p.Ile323fs) rs1734860676
NM_015697.9(COQ2):c.-4C>T
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.64A>T (p.Arg22Ter) rs112033303
NM_015697.9(COQ2):c.79C>G (p.Pro27Ala)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.