ClinVar Miner

List of variants in gene COQ8A reported as uncertain significance for not specified

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_020247.5(COQ8A):c.730G>C (p.Gly244Arg) rs199619932 0.00048
NM_020247.5(COQ8A):c.730+7C>T rs370924314 0.00016
NM_020247.5(COQ8A):c.1698G>A (p.Leu566=) rs543820987 0.00011
NM_020247.5(COQ8A):c.626C>T (p.Thr209Met) rs764173526 0.00010
NM_020247.5(COQ8A):c.1899C>T (p.Phe633=) rs150569155 0.00008
NM_020247.5(COQ8A):c.892G>A (p.Glu298Lys) rs756432144 0.00006
NM_020247.5(COQ8A):c.50A>G (p.Lys17Arg) rs150221608 0.00003
NM_020247.5(COQ8A):c.1049A>G (p.Lys350Arg) rs548317868 0.00001
NM_020247.5(COQ8A):c.1605G>C (p.Glu535Asp) rs201158713 0.00001
NM_020247.5(COQ8A):c.1773T>C (p.Ile591=) rs369502091 0.00001
NM_020247.5(COQ8A):c.337G>A (p.Glu113Lys) rs765966679 0.00001
NM_020247.5(COQ8A):c.784C>T (p.Arg262Trp) rs776595690 0.00001
NM_020247.5(COQ8A):c.973C>T (p.Arg325Trp) rs565573577 0.00001
NM_020247.5(COQ8A):c.1229G>A (p.Arg410Gln) rs763311061
NM_020247.5(COQ8A):c.1643C>T (p.Thr548Ile) rs769162966
NM_020247.5(COQ8A):c.1805C>G (p.Pro602Arg) rs61995958
NM_020247.5(COQ8A):c.1806dup (p.Pro603fs)
NM_020247.5(COQ8A):c.1883C>G (p.Pro628Arg) rs553105858
NM_020247.5(COQ8A):c.401C>T (p.Ala134Val) rs1553276975
NM_020247.5(COQ8A):c.588+3_588+6del rs1396595082

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