List of variants reported as pathogenic for Non-ketotic hyperglycinemia by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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		ClinVar version:

Total variants: 28

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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.2216G>A (p.Arg739His)	rs121964980	0.00006
NM_000481.4(AMT):c.230C>T (p.Ser77Leu)	rs386833680	0.00006
NM_000170.3(GLDC):c.2281G>A (p.Gly761Arg)	rs386833549	0.00004
NM_000170.3(GLDC):c.2311G>A (p.Gly771Arg)	rs386833553	0.00004
NM_000481.4(AMT):c.959G>A (p.Arg320His)	rs121964985	0.00004
NM_000170.3(GLDC):c.1009C>T (p.Arg337Ter)	rs386833517	0.00003
NM_000170.3(GLDC):c.2316-1G>A	rs386833554	0.00003
NM_000170.3(GLDC):c.2714T>G (p.Val905Gly)	rs188269735	0.00003
NM_000481.4(AMT):c.217C>T (p.Arg73Cys)	rs386833679	0.00003
NM_000481.4(AMT):c.878-1G>A	rs181134220	0.00003
NM_000170.3(GLDC):c.1742C>G (p.Pro581Arg)	rs772871471	0.00002
NM_000170.3(GLDC):c.2678C>T (p.Pro893Leu)	rs367987650	0.00002
NM_000170.2(GLDC):c.2980G>A (p.Gly994Arg)	rs1406713104	0.00001
NM_000170.3(GLDC):c.128del (p.Asp43fs)	rs1251443902	0.00001
NM_000170.3(GLDC):c.1786C>T (p.Arg596Ter)	rs386833531	0.00001
NM_000170.3(GLDC):c.2186del (p.Ala729fs)	rs386833543	0.00001
NM_000170.3(GLDC):c.2368C>T (p.Arg790Trp)	rs386833556	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_000481.4(AMT):c.664C>T (p.Arg222Cys)	rs781466698	0.00001
NC_000009.11:g.(6620320_6644613)_(6645693_?)del
NM_000170.3(GLDC):c.1054del (p.Thr352fs)	rs386833518
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser)	rs121964976
NM_000170.3(GLDC):c.1580+2T>G	rs1554646710
NM_000170.3(GLDC):c.2527C>T (p.Arg843Ter)	rs1554643360
NM_000170.3(GLDC):c.482A>G (p.Tyr161Cys)	rs386833580
NM_000481.4(AMT):c.471+2T>C	rs386833684

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