ClinVar Miner

List of variants reported as likely pathogenic for inborn disorder of serine family metabolism by New York Genome Center

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.1317G>T (p.Lys439Asn)	rs151163582	0.00001
NM_004577.4(PSPH):c.301C>T (p.Arg101Ter)	rs1264747554

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