ClinVar Miner

List of variants in gene PTEN reported as pathogenic for breast disorder

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.204C>A (p.Tyr68Ter) rs773176120
NM_000314.8(PTEN):c.249C>A (p.Cys83Ter) rs1554897879
NM_000314.8(PTEN):c.477G>T (p.Arg159Ser) rs1057519724
NM_000314.8(PTEN):c.492+1del rs1564830522
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.8(PTEN):c.800del (p.Lys267fs) rs121913289
NM_000314.8(PTEN):c.955_958del (p.Leu318_Thr319insTer) rs146650273

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