ClinVar Miner

List of variants in gene combination COQ2, LOC112997540 reported as uncertain significance for Coenzyme Q10 deficiency, primary, 1; Multiple system atrophy 1, susceptibility to

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Total variants: 12
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HGVS dbSNP gnomAD frequency
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.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_001358921.2(COQ2):c.165G>C (p.Gln55His) rs747231025 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.-2C>G rs573669024
NM_001358921.2(COQ2):c.227G>A (p.Arg76His) rs863223935

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