ClinVar Miner

List of variants in gene combination COQ2, LOC112997540 reported as uncertain significance by GeneDx

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001358921.2(COQ2):c.44C>G (p.Ala15Gly) rs555411841 0.00078
NM_001358921.2(COQ2):c.136C>T (p.Pro46Ser) rs767013819 0.00028
NM_001358921.2(COQ2):c.85T>C (p.Phe29Leu) rs863223933 0.00005
NM_015697.9(COQ2):c.34G>C (p.Gly12Arg) rs981288139 0.00004
NM_001358921.2(COQ2):c.165G>C (p.Gln55His) rs747231025 0.00001
NM_001358921.2(COQ2):c.86T>G (p.Phe29Cys) rs1220218092 0.00001
NM_015697.9(COQ2):c.83C>A (p.Ala28Glu) rs371993270 0.00001
NM_001358921.2(COQ2):c.1A>G (p.Met1Val) rs763414153
NM_001358921.2(COQ2):c.227G>A (p.Arg76His) rs863223935
NM_001358921.2(COQ2):c.34G>C (p.Gly12Arg) rs863223934
NM_001358921.2(COQ2):c.65C>T (p.Pro22Leu)
NM_015697.9(COQ2):c.76C>T (p.His26Tyr)

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