ClinVar Miner

List of variants reported as benign for 3-phosphoglycerate dehydrogenase deficiency by Invitae

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_058179.4(PSAT1):c.741-18T>A rs3780194 0.74689
NM_006623.4(PHGDH):c.1326G>A (p.Thr442=) rs543703 0.69798
NM_058179.4(PSAT1):c.297T>G (p.Ala99=) rs3739474 0.62693
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_058179.4(PSAT1):c.348G>A (p.Lys116=) rs41277897 0.00971
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_058179.4(PSAT1):c.696G>A (p.Val232=) rs140331840 0.00097
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_058179.4(PSAT1):c.1059C>T (p.Asp353=) rs115639310 0.00047
NM_006623.4(PHGDH):c.1209+19C>T rs367917607 0.00026
NM_058179.4(PSAT1):c.700G>T (p.Ala234Ser) rs145496413 0.00024
NM_058179.4(PSAT1):c.122-17T>C rs3739471 0.00021
NM_006623.4(PHGDH):c.1257G>A (p.Gly419=) rs374303746 0.00016
NM_058179.4(PSAT1):c.1008-11G>T rs200199574 0.00013
NM_058179.4(PSAT1):c.1074C>T (p.Ala358=) rs116103106 0.00009
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
NM_058179.4(PSAT1):c.571-4dup rs536197677
NM_058179.4(PSAT1):c.869+17dup rs2118682102

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