ClinVar Miner

List of variants reported as uncertain significance for Coenzyme Q10 deficiency, primary, 3 by Baylor Genetics

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_020381.4(PDSS2):c.667G>A (p.Val223Ile) rs35555197 0.00130
NM_020381.4(PDSS2):c.1046G>A (p.Arg349Gln) rs201388841 0.00027
NM_020381.4(PDSS2):c.700A>G (p.Lys234Glu) rs372737420 0.00001
NM_020381.4(PDSS2):c.1151C>A (p.Ala384Asp) rs1236270228
NM_020381.4(PDSS2):c.837G>A (p.Met279Ile) rs753476156

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