ClinVar Miner

List of variants in gene PTEN reported as uncertain significance by Mayo Clinic Laboratories, Mayo Clinic

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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) rs143335584 0.00029
NM_000314.8(PTEN):c.-105G>T rs1316552000 0.00003
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098 0.00003
NM_000314.8(PTEN):c.-500GGC[7] rs1237307954
NM_000314.8(PTEN):c.101C>T (p.Ala34Val) rs1554893773
NM_000314.8(PTEN):c.149T>C (p.Ile50Thr) rs1554893824
NM_000314.8(PTEN):c.287C>G (p.Pro96Arg) rs1554898074
NM_000314.8(PTEN):c.402_404del (p.Met134del) rs1554898152
NM_000314.8(PTEN):c.512A>G (p.Gln171Arg) rs786204865
NM_000314.8(PTEN):c.521A>G (p.Tyr174Cys) rs864622341
NM_000314.8(PTEN):c.587A>C (p.His196Pro) rs1564837944
NM_000314.8(PTEN):c.615G>A (p.Met205Ile) rs1554900653
NM_000314.8(PTEN):c.742_753del (p.Pro248_Gly251del) rs2132277361
NM_000314.8(PTEN):c.881G>A (p.Ser294Asn) rs1175543698

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