ClinVar Miner

List of variants in gene PHGDH reported as benign for PHGDH deficiency

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_006623.4(PHGDH):c.1209+149A>T rs627070 0.70206
NM_006623.4(PHGDH):c.1326G>A (p.Thr442=) rs543703 0.69798
NM_006623.3(PHGDH):c.-140A>G rs561931 0.61476
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.510+6A>G rs371736796 0.00133
NM_006623.4(PHGDH):c.1559C>A (p.Ala520Glu) rs151275800 0.00101
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_006623.3(PHGDH):c.-101G>C rs562038
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
NM_006623.4(PHGDH):c.792+16C>T rs2101199027

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