List of variants studied for Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency by OMIM

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_004092.4(ECHS1):c.489G>A (p.Pro163=)	rs140410716	0.00042
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg)	rs375032130	0.00009
NM_004092.4(ECHS1):c.583G>A (p.Gly195Ser)	rs761989177	0.00006
NM_004092.4(ECHS1):c.538A>G (p.Thr180Ala)	rs557128093	0.00004
NM_004092.4(ECHS1):c.5C>T (p.Ala2Val)	rs587776498	0.00004
NM_004092.4(ECHS1):c.713C>T (p.Ala238Val)	rs200584793	0.00002
NM_004092.4(ECHS1):c.832G>A (p.Ala278Thr)	rs933592081	0.00002
NM_004092.4(ECHS1):c.176A>G (p.Asn59Ser)	rs201865375	0.00001
NM_004092.4(ECHS1):c.229G>C (p.Glu77Gln)	rs1426014295
NM_004092.4(ECHS1):c.2T>G (p.Met1Arg)	rs587776497
NM_004092.4(ECHS1):c.413C>T (p.Ala138Val)	rs864309656
NM_004092.4(ECHS1):c.414+3G>C	rs786204002
NM_004092.4(ECHS1):c.473C>A (p.Ala158Asp)	rs786204001

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