List of variants reported as likely pathogenic for Non-ketotic hyperglycinemia by Fulgent Genetics, Fulgent Genetics

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000170.3(GLDC):c.2714T>G (p.Val905Gly)	rs188269735	0.00003
NM_000170.3(GLDC):c.1401+1G>A	rs1211616091	0.00001
NM_000170.3(GLDC):c.2498C>T (p.Ala833Val)	rs1275684568	0.00001
NM_000481.4(AMT):c.664C>T (p.Arg222Cys)	rs781466698	0.00001
NM_000481.4(AMT):c.889C>T (p.Arg297Ter)	rs766422988	0.00001
NM_000170.3(GLDC):c.2315+2T>A	rs1554643738
NM_000170.3(GLDC):c.2481_2484del (p.Gln828fs)	rs766762760
NM_000170.3(GLDC):c.2482C>T (p.Gln828Ter)	rs1209943477
NM_000170.3(GLDC):c.2838+5G>A	rs386833568
NM_000170.3(GLDC):c.334+1G>T	rs978795483
NM_000481.4(AMT):c.452_466del (p.Lys151_Leu155del)	rs386833683
NM_000481.4(AMT):c.886C>T (p.Arg296Cys)	rs1056820947
NM_000481.4(AMT):c.982_983delinsT (p.Ala328fs)	rs386833692
NM_000481.4(AMT):c.987del (p.Met330fs)	rs1278265933

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