ClinVar Miner

List of variants reported as uncertain significance for complex vascular malformation with associated anomalies by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) rs143335584
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) rs371387815
NM_006218.4(PIK3CA):c.1130C>G (p.Pro377Arg) rs113613074
NM_006218.4(PIK3CA):c.436G>A (p.Val146Ile) rs755969956

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