ClinVar Miner

List of variants in gene PTEN studied for Inborn genetic diseases

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Total variants: 10
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NM_000314.7(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.7(PTEN):c.1026+1G>C rs786201041
NM_000314.7(PTEN):c.103A>G (p.Met35Val) rs876659443
NM_000314.7(PTEN):c.1061C>A (p.Pro354Gln) rs375709098
NM_000314.7(PTEN):c.309del (p.Cys105fs) rs1554898088
NM_000314.7(PTEN):c.385G>A (p.Gly129Arg) rs786204929
NM_000314.7(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000314.7(PTEN):c.638C>A (p.Pro213His) rs1156887945
NM_000314.7(PTEN):c.640C>T (p.Gln214Ter) rs121909227
NM_000314.7(PTEN):c.80A>G (p.Tyr27Cys) rs886041877

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