ClinVar Miner

List of variants in gene ECHS1 reported by Neuberg Centre For Genomic Medicine, NCGM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val)	rs150321966	0.00012
NM_004092.4(ECHS1):c.414+1G>A	rs754815893	0.00001

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