ClinVar Miner

List of variants studied for Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_020312.4(COQ9):c.864G>C (p.Lys288Asn) rs61730662 0.01873
NM_020312.4(COQ9):c.921+13C>T rs115677652 0.01317
NM_020312.4(COQ9):c.79C>G (p.Arg27Gly) rs140264612

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