ClinVar Miner

List of variants in gene PTEN reported as uncertain significance by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) rs371387815 0.00009
NM_000314.8(PTEN):c.*5T>C rs1006891299 0.00005
NM_000314.8(PTEN):c.-765G>A rs587776674 0.00002
NM_000314.8(PTEN):c.635-8C>A rs780495238 0.00001
NM_000314.8(PTEN):c.801+8C>G rs1057517630 0.00001
NM_000314.8(PTEN):c.*10del rs756681683
NM_000314.8(PTEN):c.-751G>T
NM_000314.8(PTEN):c.-752G>A rs1256922808
NM_000314.8(PTEN):c.-771G>A rs786202516
NM_000314.8(PTEN):c.-773C>T rs922418729
NM_000314.8(PTEN):c.1018A>C (p.Asn340His) rs759852661
NM_000314.8(PTEN):c.1021T>G (p.Phe341Val) rs1554825652
NM_000314.8(PTEN):c.1066A>G (p.Asn356Asp) rs587782345
NM_000314.8(PTEN):c.1066A>T (p.Asn356Tyr) rs587782345
NM_000314.8(PTEN):c.107G>A (p.Gly36Glu) rs1554893792
NM_000314.8(PTEN):c.210-7C>T
NM_000314.8(PTEN):c.504T>G (p.Ile168Met)
NM_000314.8(PTEN):c.635A>G (p.Asn212Ser) rs1554825156
NM_000314.8(PTEN):c.701G>A (p.Arg234Gln) rs121909235
NM_000314.8(PTEN):c.725A>T (p.Glu242Val) rs1860545768
NM_000314.8(PTEN):c.80-1_80del rs1554893747
NM_000314.8(PTEN):c.80-8del rs1060503844
NM_000314.8(PTEN):c.802-3T>A rs587780712
NM_000314.8(PTEN):c.808A>G (p.Met270Val) rs1554825502
NM_000314.8(PTEN):c.824T>C (p.Val275Ala)
NM_000314.8(PTEN):c.838A>G (p.Ile280Val) rs1474354667
NM_000314.8(PTEN):c.914G>A (p.Ser305Asn) rs587780007
NM_000314.8(PTEN):c.935A>G (p.Asp312Gly) rs863224667

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