ClinVar Miner

List of variants in gene COQ2, LOC112997540 studied for coenzyme Q10 deficiency

Included ClinVar conditions (13):
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Gene type:
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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_001358921.2(COQ2):c.46G>T (p.Val16Leu) rs6818847 0.62431
NM_015697.9(COQ2):c.30G>A (p.Arg10=) rs183012002 0.00375
NM_001358921.2(COQ2):c.170G>C (p.Ser57Thr) rs550949678 0.00102
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.-23C>G rs368891722 0.00013
NM_001358921.2(COQ2):c.232A>G (p.Met78Val) rs778094136 0.00006
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.182C>T (p.Ala61Val) rs1233395596 0.00002
NM_015697.9(COQ2):c.115A>T (p.Thr39Ser) rs369705200 0.00002
NM_001358921.2(COQ2):c.165G>C (p.Gln55His) rs747231025 0.00001
NM_001358921.2(COQ2):c.253+4A>T rs907149421 0.00001
NM_001358921.2(COQ2):c.89C>T (p.Ala30Val) rs942463668 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.-27C>T
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.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.220T>A (p.Tyr74Asn) rs1577993720
NM_001358921.2(COQ2):c.227G>A (p.Arg76His) rs863223935
NM_001358921.2(COQ2):c.4C>A (p.Leu2Met)
NM_001358921.2(COQ2):c.71G>A (p.Trp24Ter) rs2126177139
NM_001358921.2(COQ2):c.73_99delinsAAGGA (p.Arg25fs)
NM_001358921.2(COQ2):c.80G>A (p.Arg27His)
NM_015697.9(COQ2):c.16C>A (p.Gln6Lys) rs752575160
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.40dup (p.Ala14fs)
NM_015697.9(COQ2):c.48dup (p.Ala17fs) rs767298430
NM_015697.9(COQ2):c.58C>T (p.Pro20Ser)
NM_015697.9(COQ2):c.64A>T (p.Arg22Ter) rs112033303
NM_015697.9(COQ2):c.79C>G (p.Pro27Ala)
NM_015697.9(COQ2):c.97C>T (p.His33Tyr) rs1735431555

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