ClinVar Miner

List of variants studied for Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency by 3billion, Medical Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004092.4(ECHS1):c.176A>G (p.Asn59Ser) rs201865375 0.00001
NM_004092.4(ECHS1):c.23T>C (p.Leu8Pro) rs775833766
NM_004092.4(ECHS1):c.2T>G (p.Met1Arg) rs587776497

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