ClinVar Miner

List of variants in gene COQ4 studied for Inborn genetic diseases

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Total variants: 16
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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.103G>A (p.Gly35Ser) rs141078819 0.00010
NM_016035.5(COQ4):c.202G>C (p.Asp68His) rs758522459 0.00007
NM_016035.5(COQ4):c.47C>G (p.Pro16Arg) rs775518369 0.00003
NM_016035.5(COQ4):c.580A>G (p.Met194Val) rs150739190 0.00002
NM_016035.5(COQ4):c.71-5C>G rs760080044 0.00002
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_016035.5(COQ4):c.608C>T (p.Pro203Leu) rs1282286776 0.00001
NM_016035.5(COQ4):c.676G>A (p.Gly226Arg) rs1363468440 0.00001
NM_016035.5(COQ4):c.680G>A (p.Arg227His) rs750609726 0.00001
NM_016035.5(COQ4):c.107C>T (p.Pro36Leu)
NM_016035.5(COQ4):c.19C>T (p.Pro7Ser)
NM_016035.5(COQ4):c.716G>A (p.Arg239Gln)
NM_016035.5(COQ4):c.754C>A (p.Leu252Met)
NM_016035.5(COQ4):c.780C>A (p.His260Gln)

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