ClinVar Miner

List of variants studied for Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome by OMIM

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_016035.5(COQ4):c.718C>T (p.Arg240Cys) rs143441644 0.00017
NM_016035.5(COQ4):c.202G>C (p.Asp68His) rs758522459 0.00007
NM_016035.5(COQ4):c.370G>A (p.Gly124Ser) rs776825296 0.00003
NM_016035.5(COQ4):c.190C>T (p.Pro64Ser) rs766317663 0.00001
NM_016035.5(COQ4):c.305G>A (p.Arg102His) rs929713295 0.00001
NM_016035.5(COQ4):c.421C>T (p.Arg141Ter) rs775607037 0.00001
NM_016035.5(COQ4):c.155T>C (p.Leu52Ser) rs786204770
NM_016035.5(COQ4):c.197_198delinsAA (p.Arg66Gln) rs886040973
NM_016035.5(COQ4):c.284G>A (p.Gly95Asp) rs779568890
NM_016035.5(COQ4):c.433C>G (p.Arg145Gly) rs774395996
NM_016035.5(COQ4):c.518CCA[1] (p.Thr174del) rs786204771
NM_016035.5(COQ4):c.577C>T (p.Pro193Ser) rs568200779

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