List of variants reported as uncertain significance for Non-ketotic hyperglycinemia by Fulgent Genetics, Fulgent Genetics

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Total variants: 24

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HGVS	dbSNP	gnomAD frequency
NM_004483.5(GCSH):c.53C>T (p.Ala18Val)	rs540997326	0.00326
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr)	rs147472391	0.00036
NM_000170.3(GLDC):c.2147T>A (p.Leu716His)	rs145018304	0.00032
NM_000170.3(GLDC):c.1000T>C (p.Phe334Leu)	rs149133229	0.00031
NM_000481.4(AMT):c.825T>A (p.Asn275Lys)	rs144241950	0.00031
NM_000170.3(GLDC):c.-31C>A	rs964863986	0.00024
NM_000481.4(AMT):c.635T>C (p.Val212Ala)	rs201141125	0.00024
NM_000170.3(GLDC):c.2518A>G (p.Met840Val)	rs781693346	0.00011
NM_000481.4(AMT):c.194A>G (p.His65Arg)	rs376248724	0.00010
NM_000170.3(GLDC):c.1121G>A (p.Arg374Lys)	rs141065026	0.00006
NM_000481.4(AMT):c.436G>A (p.Ala146Thr)	rs570868528	0.00005
NM_000170.3(GLDC):c.869C>T (p.Ala290Val)	rs534936420	0.00004
NM_000481.4(AMT):c.283G>A (p.Val95Met)	rs183396486	0.00004
NM_000170.3(GLDC):c.2369G>A (p.Arg790Gln)	rs187209250	0.00003
NM_000481.4(AMT):c.1082C>T (p.Ala361Val)	rs757293245	0.00003
NM_000170.3(GLDC):c.1342G>C (p.Glu448Gln)	rs777365335	0.00002
NM_000170.3(GLDC):c.1525C>G (p.Pro509Ala)	rs557412758	0.00001
NM_000170.3(GLDC):c.2013T>A (p.Asp671Glu)	rs762425284	0.00001
NM_000481.4(AMT):c.218G>A (p.Arg73His)	rs928833763	0.00001
NM_000481.4(AMT):c.29G>A (p.Arg10His)	rs150649086	0.00001
NM_000481.4(AMT):c.890G>A (p.Arg297Gln)	rs770048404	0.00001
NM_004483.5(GCSH):c.364G>A (p.Glu122Lys)	rs753037667	0.00001
NM_000170.3(GLDC):c.1484_1489del	rs778109389
NM_000170.3(GLDC):c.861+5G>C	rs192663616

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