ClinVar Miner

List of variants reported as benign for mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (1):

Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_004092.4(ECHS1):c.286+8C>T	rs189727187	0.01158
NM_004092.4(ECHS1):c.808-17G>A	rs114654147	0.00506
NM_004092.4(ECHS1):c.240G>A (p.Pro80=)	rs35775473	0.00380

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