List of variants in gene GATM reported as pathogenic for AGAT deficiency

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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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.778C>T (p.Arg260Ter)	rs775933965	0.00001
NM_001482.3(GATM):c.1079dup (p.Met360fs)
NM_001482.3(GATM):c.1111dup (p.Met371fs)	rs397515542
NM_001482.3(GATM):c.207C>A (p.Tyr69Ter)
NM_001482.3(GATM):c.216G>A (p.Trp72Ter)	rs1566842679
NM_001482.3(GATM):c.401T>G (p.Leu134Ter)	rs2140646735
NM_001482.3(GATM):c.446G>A (p.Trp149Ter)	rs80338737
NM_001482.3(GATM):c.484+1G>T	rs80338738
NM_001482.3(GATM):c.551del (p.Met184fs)
NM_001482.3(GATM):c.580C>T (p.Arg194Ter)
NM_001482.3(GATM):c.608A>C (p.Tyr203Ser)	rs397514709
NM_001482.3(GATM):c.629G>A (p.Trp210Ter)
NM_001482.3(GATM):c.724_725del (p.Gly242fs)	rs2140641896
NM_001482.3(GATM):c.76C>T (p.Arg26Ter)
NM_001482.3(GATM):c.959del (p.Pro320fs)	rs1889443484

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