List of variants reported as likely pathogenic for PHGDH deficiency

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Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met)	rs121907987	0.00006
NM_006623.4(PHGDH):c.1129G>A (p.Gly377Ser)	rs267606948	0.00002
NM_006623.4(PHGDH):c.374C>T (p.Thr125Met)	rs764618040	0.00002
NM_006623.4(PHGDH):c.1030C>T (p.Arg344Ter)	rs769256568	0.00001
NM_006623.4(PHGDH):c.357-1G>A	rs766427173	0.00001
NM_006623.4(PHGDH):c.797C>T (p.Pro266Leu)	rs775936961	0.00001
NC_000001.10:g.(?_120254418)_(120254784_120263792)del
NM_006623.4(PHGDH):c.1078+1G>A	rs1224279673
NM_006623.4(PHGDH):c.1079-2A>G	rs2101220673
NM_006623.4(PHGDH):c.138+1G>T
NM_006623.4(PHGDH):c.139-2A>G
NM_006623.4(PHGDH):c.1394del (p.Leu465fs)
NM_006623.4(PHGDH):c.1437_1440del (p.Pro479_Thr480insTer)	rs2101225889
NM_006623.4(PHGDH):c.290+2T>C	rs886041874
NM_006623.4(PHGDH):c.291-1G>A	rs2101160151
NM_006623.4(PHGDH):c.2T>C (p.Met1Thr)	rs951372478
NM_006623.4(PHGDH):c.356+2T>G	rs1651264976
NM_006623.4(PHGDH):c.411+2T>C	rs1302054606
NM_006623.4(PHGDH):c.412-1G>A
NM_006623.4(PHGDH):c.412-1G>C	rs1651455730
NM_006623.4(PHGDH):c.418G>A (p.Gly140Arg)	rs587777770
NM_006623.4(PHGDH):c.511-2A>G	rs2101195348
NM_006623.4(PHGDH):c.643+1G>A
NM_006623.4(PHGDH):c.781G>A (p.Val261Met)	rs267606947
NM_006623.4(PHGDH):c.901del (p.Val301fs)	rs1571013274
NM_006623.4(PHGDH):c.945+1G>A	rs758517215
NM_006623.4(PHGDH):c.945+1G>T	rs758517215
NM_006623.4(PHGDH):c.946-2A>G	rs1217925678

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