ClinVar Miner

List of variants in gene PTEN reported as pathogenic for digestive system disorder

Included ClinVar conditions (605):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000314.8(PTEN):c.-136G>C rs2132144454
NM_000314.8(PTEN):c.254-2_254-1del
NM_000314.8(PTEN):c.370T>C (p.Cys124Arg) rs121909223
NM_000314.8(PTEN):c.370dup (p.Cys124fs)
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000314.8(PTEN):c.477G>T (p.Arg159Ser) rs1057519724
NM_000314.8(PTEN):c.493-1G>A rs786204862
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000314.8(PTEN):c.800del (p.Lys267fs) rs121913289
NM_000314.8(PTEN):c.959T>G (p.Leu320Ter) rs1114167667

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