List of variants reported as likely pathogenic for coenzyme Q10 deficiency by Revvity Omics, Revvity

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_016035.5(COQ4):c.718C>T (p.Arg240Cys)	rs143441644	0.00017
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys)	rs145034527	0.00004
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys)	rs119468004	0.00002
NM_020247.5(COQ8A):c.901C>T (p.Arg301Trp)	rs140246430	0.00002
NM_020312.4(COQ9):c.522-1G>A	rs747898678	0.00001
NM_182476.3(COQ6):c.1027C>T (p.Arg343Ter)	rs559873718	0.00001
NM_001358921.2(COQ2):c.-27C>T
NM_001358921.2(COQ2):c.762+1G>T	rs767624218
NM_016035.5(COQ4):c.402+1G>A	rs747779231
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del)	rs387906299
NM_020247.5(COQ8A):c.32del (p.Val11fs)
NM_020247.5(COQ8A):c.902G>A (p.Arg301Gln)
NM_020312.4(COQ9):c.74-2A>G	rs752219939

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