ClinVar Miner

List of variants reported as pathogenic for inborn disorder of serine family metabolism by GeneReviews

Included ClinVar conditions (14):

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

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000170.3(GLDC):c.1691G>T (p.Ser564Ile)	rs121964974	0.00016
NM_000481.4(AMT):c.878-1G>A	rs181134220	0.00003

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