List of variants in gene ADH5 reported as pathogenic for AMED syndrome, digenic

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000671.4(ADH5):c.832G>C (p.Ala278Pro)	rs754853545	0.00002
NM_000671.4(ADH5):c.564+1G>A	rs1727938145
NM_000671.4(ADH5):c.966del (p.Gly321_Trp322insTer)	rs748162259

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