ClinVar Miner

List of variants in gene COQ4 reported as pathogenic for neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 28
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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.301G>T (p.Glu101Ter) rs748924643 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.458C>T (p.Ala153Val) rs757173567 0.00001
NM_016035.5(COQ4):c.469C>A (p.Gln157Lys) rs1045118320 0.00001
NM_016035.4(COQ4):c.[23_33delTCCTCCGTCGG];[331G>T;356C>T]
NM_016035.5(COQ4):c.197_198delinsAA (p.Arg66Gln) rs886040973
NM_016035.5(COQ4):c.19_20del (p.Pro7fs) rs909428117
NM_016035.5(COQ4):c.202G>A (p.Asp68Asn) rs758522459
NM_016035.5(COQ4):c.223G>T (p.Glu75Ter)
NM_016035.5(COQ4):c.23_33del (p.Val8fs) rs886041549
NM_016035.5(COQ4):c.284G>A (p.Gly95Asp) rs779568890
NM_016035.5(COQ4):c.371G>T (p.Gly124Val) rs1412692974
NM_016035.5(COQ4):c.385dup (p.Arg129fs) rs1440543613
NM_016035.5(COQ4):c.402+1G>A rs747779231
NM_016035.5(COQ4):c.402+1G>C rs747779231
NM_016035.5(COQ4):c.433C>G (p.Arg145Gly) rs774395996
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys) rs1163170578
NM_016035.5(COQ4):c.518CCA[1] (p.Thr174del) rs786204771
NM_016035.5(COQ4):c.577C>T (p.Pro193Ser) rs568200779
NM_016035.5(COQ4):c.613C>T (p.Arg205Ter)
NM_016035.5(COQ4):c.626+1G>C
NM_016035.5(COQ4):c.662G>A (p.Trp221Ter)
NM_016035.5(COQ4):c.67dup (p.Ala23fs) rs1554796655

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