List of variants reported as pathogenic for AGAT deficiency by ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel, ClinGen

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001482.3(GATM):c.505C>T (p.Arg169Ter)	rs397514708	0.00001
NM_001482.3(GATM):c.1111dup (p.Met371fs)	rs397515542
NM_001482.3(GATM):c.446G>A (p.Trp149Ter)	rs80338737
NM_001482.3(GATM):c.484+1G>T	rs80338738
NM_001482.3(GATM):c.629G>A (p.Trp210Ter)

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