List of variants in gene GCSH 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: 4

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HGVS	dbSNP	gnomAD frequency
NM_004483.5(GCSH):c.226C>T (p.Gln76Ter)	rs769222264	0.00002
NC_000016.10:g.(?_81082846)_(81096298_?)del
NC_000016.9:g.(?_81121196)_(81129883_?)del
NM_004483.5(GCSH):c.338_342del (p.Tyr113fs)	rs1972233022

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