ClinVar Miner

List of variants in gene combination COQ6, ENTPD5 reported by Mayo Clinic Laboratories, Mayo Clinic

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_182476.3(COQ6):c.1216G>A (p.Val406Met) rs8500 0.39628
NM_182476.3(COQ6):c.570T>C (p.His190=) rs3180946 0.30516
NM_182476.3(COQ6):c.1016A>T (p.Asp339Val) rs2074930 0.08198
NM_182476.3(COQ6):c.395A>G (p.Asp132Gly) rs45496292 0.00144
NM_182476.3(COQ6):c.449A>G (p.His150Arg) rs144880038 0.00039
NM_182476.3(COQ6):c.346C>T (p.Arg116Trp) rs148540645 0.00026
NM_182476.3(COQ6):c.1118C>T (p.Pro373Leu) rs199869505 0.00007
NM_182476.3(COQ6):c.367G>A (p.Ala123Thr) rs377529207 0.00001
NM_182476.3(COQ6):c.877G>A (p.Val293Ile) rs201706177

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