ClinVar Miner

List of variants reported as likely benign for PHGDH deficiency by Natera, Inc.

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_006623.4(PHGDH):c.792+6T>G rs146953046 0.01118
NM_006623.4(PHGDH):c.510+6A>G rs371736796 0.00133
NM_006623.4(PHGDH):c.1208A>G (p.Asn403Ser) rs139827025 0.00091
NM_006623.4(PHGDH):c.411+9C>T rs187075075 0.00019
NM_006623.4(PHGDH):c.1257G>A (p.Gly419=) rs374303746 0.00016
NM_006623.4(PHGDH):c.743C>T (p.Ala248Val) rs201782441 0.00013
NM_006623.4(PHGDH):c.422C>T (p.Thr141Ile) rs200037593 0.00009
NM_006623.4(PHGDH):c.1560G>A (p.Ala520=) rs145788723 0.00008
NM_006623.4(PHGDH):c.261C>T (p.Ala87=) rs761309245 0.00007
NM_006623.4(PHGDH):c.1255G>A (p.Gly419Arg) rs145344767 0.00006
NM_006623.4(PHGDH):c.1116C>T (p.Pro372=) rs587662790 0.00004
NM_006623.4(PHGDH):c.1254C>T (p.Phe418=) rs763258512 0.00004
NM_006623.4(PHGDH):c.1575G>T (p.Val525=) rs587681898 0.00004
NM_006623.4(PHGDH):c.1149C>T (p.Ser383=) rs145449458 0.00002
NM_006623.4(PHGDH):c.909C>T (p.Phe303=) rs762185673 0.00002
NM_006623.4(PHGDH):c.180C>T (p.Thr60=) rs769991971 0.00001
NM_006623.4(PHGDH):c.639G>A (p.Thr213=) rs1489385483 0.00001
NM_006623.4(PHGDH):c.1078+10G>T rs374994783
NM_006623.4(PHGDH):c.1209+9del rs776173839
NM_006623.4(PHGDH):c.267A>C (p.Thr89=) rs767488641
NM_006623.4(PHGDH):c.519G>A (p.Gly173=) rs754326499

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