ClinVar Miner

List of variants in gene COQ8A reported as uncertain significance by GeneDx

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_020247.5(COQ8A):c.1378A>G (p.Ser460Gly) rs149364914 0.00071
NM_020247.5(COQ8A):c.1286A>G (p.Tyr429Cys) rs144147839 0.00025
NM_020247.5(COQ8A):c.1900G>A (p.Glu634Lys) rs149335528 0.00022
NM_020247.5(COQ8A):c.1258G>A (p.Asp420Asn) rs147097934 0.00014
NM_020247.5(COQ8A):c.1535G>A (p.Arg512Gln) rs200115323 0.00009
NM_020247.5(COQ8A):c.11T>A (p.Ile4Lys) rs202075418 0.00008
NM_020247.5(COQ8A):c.1198C>T (p.Arg400Trp) rs541836846 0.00006
NM_020247.5(COQ8A):c.664G>A (p.Val222Met) rs372435075 0.00006
NM_020247.5(COQ8A):c.892G>A (p.Glu298Lys) rs756432144 0.00006
NM_020247.5(COQ8A):c.1407C>T (p.Tyr469=) rs773258464 0.00005
NM_020247.5(COQ8A):c.1097A>G (p.Gln366Arg) rs759470563 0.00003
NM_020247.5(COQ8A):c.1047G>A (p.Met349Ile) rs1473665143 0.00002
NM_020247.5(COQ8A):c.1313G>A (p.Cys438Tyr) rs1659914808 0.00002
NM_020247.5(COQ8A):c.588G>A (p.Thr196=) rs758570123 0.00002
NM_020247.5(COQ8A):c.1090G>A (p.Val364Met) rs371269974 0.00001
NM_020247.5(COQ8A):c.1919_*1del (p.Tyr640_Ter648delinsXaa) rs763379245 0.00001
NM_020247.5(COQ8A):c.526G>A (p.Glu176Lys) rs776354118 0.00001
NM_020247.5(COQ8A):c.1108A>G (p.Ser370Gly)
NM_020247.5(COQ8A):c.1252T>C (p.Phe418Leu) rs2148131420
NM_020247.5(COQ8A):c.1276C>A (p.Pro426Thr)
NM_020247.5(COQ8A):c.1398+3_1398+6del rs863223886
NM_020247.5(COQ8A):c.1470C>A (p.Asn490Lys)
NM_020247.5(COQ8A):c.1534C>T (p.Arg512Trp)
NM_020247.5(COQ8A):c.1672G>A (p.Ala558Thr)
NM_020247.5(COQ8A):c.1676A>C (p.His559Pro) rs902464326
NM_020247.5(COQ8A):c.1677C>A (p.His559Gln) rs200963031
NM_020247.5(COQ8A):c.1805C>A (p.Pro602Gln) rs61995958
NM_020247.5(COQ8A):c.1942T>C (p.Ter648Gln) rs766591347
NM_020247.5(COQ8A):c.308C>T (p.Ala103Val)
NM_020247.5(COQ8A):c.605G>A (p.Arg202Gln)
NM_020247.5(COQ8A):c.758C>T (p.Pro253Leu)
NM_020247.5(COQ8A):c.832G>C (p.Gly278Arg)
NM_020247.5(COQ8A):c.87C>G (p.His29Gln)
NM_020247.5(COQ8A):c.892G>C (p.Glu298Gln) rs756432144
NM_020247.5(COQ8A):c.913G>A (p.Asp305Asn)
NM_020247.5(COQ8A):c.97G>A (p.Gly33Arg) rs552784842

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