List of variants reported as benign for AGAT deficiency

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Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_001482.3(GATM):c.*940C>T	rs1049518	0.55910
NM_001482.3(GATM):c.1252T>C (p.Leu418=)	rs1145086	0.55793
NM_001482.3(GATM):c.*715T>C	rs1049508	0.46090
NM_001482.3(GATM):c.330A>T (p.Gln110His)	rs1288775	0.45330
NM_001482.2(GATM):c.-200C>T	rs7164139	0.31090
NM_001482.3(GATM):c.*600A>G	rs1049503	0.31074
NM_001482.3(GATM):c.-30T>G	rs8024550	0.11642
NM_001482.3(GATM):c.*913G>A	rs17618637	0.08643
NM_001482.3(GATM):c.*847G>A	rs1145087	0.00446
NM_001482.3(GATM):c.669T>C (p.Tyr223=)	rs151231277	0.00163
NM_001482.3(GATM):c.69+13C>T	rs573273215	0.00101
NM_001482.3(GATM):c.*699A>C	rs750817737	0.00099
NM_001482.3(GATM):c.407C>T (p.Thr136Met)	rs148564534	0.00063
NM_001482.3(GATM):c.*27C>G	rs200143728	0.00058
NM_001482.3(GATM):c.1041C>T (p.Asp347=)	rs139599307	0.00007
NM_001482.3(GATM):c.1030A>G (p.Ile344Val)	rs747608698	0.00004
NM_001482.3(GATM):c.1244G>A (p.Arg415Gln)	rs374592247	0.00004
NM_001482.3(GATM):c.1239G>A (p.Arg413=)	rs550159982	0.00003
NM_001482.3(GATM):c.*125G>A	rs143689218
NM_001482.3(GATM):c.*595C>A	rs75565512
NM_001482.3(GATM):c.734_735insCA	rs35410548
NM_001482.3(GATM):c.1159+19A>T	rs187979088
NM_001482.3(GATM):c.288+184_288+195del	rs6145546
NM_001482.3(GATM):c.485-11dup	rs758611156
NM_001482.3(GATM):c.70-16del
NM_001482.3(GATM):c.979-11del	rs202176047
NM_001482.3(GATM):c.979-12_979-11del	rs202176047
NM_001482.3(GATM):c.979-18dup	rs202176047
NM_001482.3(GATM):c.979-19del

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