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

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Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_001482.3(GATM):c.1159+14A>G	rs368974196	0.00003
NM_001482.3(GATM):c.845G>A (p.Arg282His)	rs371447931	0.00002
NM_001482.3(GATM):c.1037C>T (p.Pro346Leu)	rs142814307	0.00001
NM_001482.3(GATM):c.1231G>A (p.Asp411Asn)	rs768171759	0.00001
NM_001482.3(GATM):c.565C>T (p.Arg189Cys)	rs377578020	0.00001
NM_001482.3(GATM):c.622G>A (p.Ala208Thr)	rs374059924	0.00001
NM_001482.3(GATM):c.985C>G (p.Leu329Val)	rs373802463	0.00001
NM_001482.3(GATM):c.*104A>G	rs886051201
NM_001482.3(GATM):c.1006A>G (p.Thr336Ala)	rs1889422994
NM_001482.3(GATM):c.1007C>T (p.Thr336Ile)	rs1481334244
NM_001482.3(GATM):c.1022C>T (p.Pro341Leu)	rs1889422661
NM_001482.3(GATM):c.1162A>G (p.Ile388Val)	rs1170650328
NM_001482.3(GATM):c.1209del (p.Gly404fs)	rs1566838819
NM_001482.3(GATM):c.1269C>G (p.Asp423Glu)	rs1566838768
NM_001482.3(GATM):c.222C>T (p.Pro74=)	rs774485349
NM_001482.3(GATM):c.297A>G (p.Thr99=)	rs1445305823
NM_001482.3(GATM):c.314C>T (p.Pro105Leu)	rs147804855
NM_001482.3(GATM):c.541G>A (p.Glu181Lys)	rs376982466
NM_001482.3(GATM):c.675+3G>C	rs1049378713

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