List of variants in gene SUGCT reported as pathogenic for inborn disorder of amino acid metabolism

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_001193313.2(SUGCT):c.985C>T (p.Arg329Trp)	rs137852860	0.00490
NM_001193313.2(SUGCT):c.301C>T (p.Arg101Ter)	rs137852862	0.00019
NM_001193313.2(SUGCT):c.514C>T (p.Arg172Ter)	rs137852861	0.00002

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