List of variants reported as pathogenic for Glycine encephalopathy 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000170.3(GLDC):c.499G>T (p.Glu167Ter)	rs191905539	0.00012
NM_000170.3(GLDC):c.1009C>T (p.Arg337Ter)	rs386833517	0.00003
NM_000170.3(GLDC):c.1166C>T (p.Ala389Val)	rs121964979	0.00003
NM_000170.3(GLDC):c.2316-1G>A	rs386833554	0.00003
NM_000170.3(GLDC):c.2665+1G>C	rs149070244	0.00003
NM_000170.3(GLDC):c.911C>T (p.Pro304Leu)	rs1207147043	0.00003
NM_000170.3(GLDC):c.1652G>T (p.Ser551Ile)	rs751822565	0.00002
NM_000170.3(GLDC):c.1270C>T (p.Arg424Ter)	rs386833521	0.00001
NM_000170.3(GLDC):c.1580+2T>G	rs1554646710	0.00001
NM_000170.3(GLDC):c.1786C>T (p.Arg596Ter)	rs386833531	0.00001
NM_000170.3(GLDC):c.395C>T (p.Ser132Leu)	rs386833576	0.00001
NM_000170.3(GLDC):c.806C>T (p.Thr269Met)	rs386833587	0.00001
NM_000170.3(GLDC):c.1054del (p.Thr352fs)	rs386833518
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser)	rs121964976
NM_000170.3(GLDC):c.2919+1G>C	rs386833575

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