List of variants studied for inborn disorder of serine family metabolism by 3billion, Medical Genetics

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000481.4(AMT):c.1021G>A (p.Gly341Ser)	rs769609020	0.00002
NM_000481.4(AMT):c.794G>A (p.Arg265His)	rs757918826	0.00002
NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp)	rs150171524	0.00001
NM_000481.4(AMT):c.496C>T (p.Gln166Ter)	rs558998633	0.00001
NM_000481.4(AMT):c.958C>T (p.Arg320Cys)	rs866625610	0.00001
NM_000170.3(GLDC):c.1484_1489del	rs778109389
NM_000170.3(GLDC):c.1726T>G (p.Phe576Val)	rs2129832067
NM_000170.3(GLDC):c.2516A>G (p.Tyr839Cys)
NM_000170.3(GLDC):c.2552T>G (p.Leu851Arg)	rs753948580
NM_000170.3(GLDC):c.2690G>T (p.Trp897Leu)
NM_000481.4(AMT):c.1068GAA[2] (p.Lys358del)	rs768940499
NM_000481.4(AMT):c.311G>A (p.Gly104Glu)	rs753221440
NM_000481.4(AMT):c.970_972del (p.Met324del)	rs386833691
NM_004483.5(GCSH):c.425G>T (p.Gly142Val)
NM_006623.4(PHGDH):c.1210G>A (p.Val404Ile)
NM_058179.4(PSAT1):c.444C>A (p.Tyr148Ter)	rs148598272

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