ClinVar Miner

List of variants in gene COQ8A reported as likely pathogenic for not provided

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Gene type:
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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_020247.5(COQ8A):c.1665G>A (p.Met555Ile) rs199874519 0.00016
NM_020247.5(COQ8A):c.1000C>T (p.Arg334Trp) rs373971613 0.00005
NM_020247.5(COQ8A):c.1532C>T (p.Thr511Met) rs578189699 0.00005
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00004
NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp) rs201908721 0.00003
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys) rs119468004 0.00002
NM_020247.5(COQ8A):c.911C>T (p.Ala304Val) rs748118737 0.00002
NM_020247.5(COQ8A):c.1080+1G>A rs767634570 0.00001
NM_020247.5(COQ8A):c.588+1G>C rs1474965033 0.00001
NM_020247.5(COQ8A):c.854-2A>G rs1338137742 0.00001
NM_020247.5(COQ8A):c.1028A>G (p.Gln343Arg) rs863223884
NM_020247.5(COQ8A):c.1163-2A>G rs1572081759
NM_020247.5(COQ8A):c.1393A>C (p.Asn465His) rs863223887
NM_020247.5(COQ8A):c.148del (p.Gln50fs) rs1553276474
NM_020247.5(COQ8A):c.1505_1506+21del rs760327691
NM_020247.5(COQ8A):c.1625_1626del (p.Ile542fs) rs751637699
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del) rs387906299
NM_020247.5(COQ8A):c.178-2A>G
NM_020247.5(COQ8A):c.1805C>A (p.Pro602Gln) rs61995958
NM_020247.5(COQ8A):c.1805C>T (p.Pro602Leu) rs61995958
NM_020247.5(COQ8A):c.1815_1816delinsC (p.Glu605fs) rs1085307497
NM_020247.5(COQ8A):c.337G>T (p.Glu113Ter) rs765966679
NM_020247.5(COQ8A):c.397C>T (p.Gln133Ter) rs1553276966
NM_020247.5(COQ8A):c.637C>G (p.Arg213Gly) rs119468005
NM_020247.5(COQ8A):c.802T>C (p.Cys268Arg)
NM_020247.5(COQ8A):c.830T>C (p.Leu277Pro) rs781518112
NM_020247.5(COQ8A):c.902G>A (p.Arg301Gln)
NM_020247.5(COQ8A):c.910G>A (p.Ala304Thr)
Single allele rs1553281318

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