List of variants reported as likely pathogenic for inborn disorder of serine family metabolism by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000481.4(AMT):c.217C>T (p.Arg73Cys)	rs386833679	0.00003
NM_006623.4(PHGDH):c.374C>T (p.Thr125Met)	rs764618040	0.00002
NM_000170.3(GLDC):c.176G>C (p.Arg59Thr)	rs386833530
NM_000170.3(GLDC):c.2380_2399del (p.Ala794fs)	rs1817555980
NM_006623.4(PHGDH):c.290+2T>C	rs886041874

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