ClinVar Miner

List of variants in gene PTEN studied for complex vascular malformation with associated anomalies

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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NM_000314.7(PTEN):c.152_160dup (p.Asp51_Val53dup) rs1564814602
NM_000314.7(PTEN):c.860C>G (p.Ser287Ter) rs863224909
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

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