List of variants reported as benign for PHGDH deficiency by Invitae

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_006623.4(PHGDH):c.1326G>A (p.Thr442=)	rs543703	0.69798
NM_006623.4(PHGDH):c.138+2327T>C	rs637868	0.55284
NM_006623.4(PHGDH):c.139-13T>C	rs894078	0.01680
NM_006623.4(PHGDH):c.318C>T (p.Ala106=)	rs115747918	0.01251
NM_006623.4(PHGDH):c.792+6T>G	rs146953046	0.01118
NM_006623.4(PHGDH):c.357-17T>C	rs76447100	0.00863
NM_006623.4(PHGDH):c.595C>G (p.Leu199Val)	rs77632964	0.00622
NM_006623.4(PHGDH):c.1158G>T (p.Ala386=)	rs144484007	0.00191
NM_006623.4(PHGDH):c.624T>C (p.Pro208=)	rs77401816	0.00154
NM_006623.4(PHGDH):c.985A>T (p.Thr329Ser)	rs201298102	0.00064
NM_006623.4(PHGDH):c.834C>A (p.Val278=)	rs147866831	0.00051
NM_006623.4(PHGDH):c.1209+19C>T	rs367917607	0.00026
NM_006623.4(PHGDH):c.1257G>A (p.Gly419=)	rs374303746	0.00016
NM_006623.4(PHGDH):c.1116C>T (p.Pro372=)	rs587662790	0.00004
NM_006623.4(PHGDH):c.1209+17C>T	rs587674701
NM_006623.4(PHGDH):c.139-10del
NM_006623.4(PHGDH):c.139-10dup
NM_006623.4(PHGDH):c.519G>A (p.Gly173=)	rs754326499

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