ClinVar Miner

List of variants reported as likely pathogenic for Mitochondrial short-chain enoyl-coa hydratase 1 deficiency

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Total variants: 6
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NM_004092.4(ECHS1):c.160C>T (p.Arg54Cys) rs758723288
NM_004092.4(ECHS1):c.488C>T (p.Pro163Leu) rs371582393
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val) rs150321966
NM_004092.4(ECHS1):c.541C>T (p.Arg181Cys) rs754609693
NM_004092.4(ECHS1):c.676G>A (p.Ala226Thr) rs1318391499
NM_004092.4(ECHS1):c.830C>T (p.Thr277Ile) rs775650144

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