ClinVar Miner

List of variants in gene PTEN reported by Mendelics

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Total variants: 15
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HGVS dbSNP
NM_000314.4(PTEN):c.-920G>A rs786204937
NM_000314.7(PTEN):c.-481_-473del rs1226857287
NM_000314.7(PTEN):c.-700G>A rs1554890059
NM_000314.7(PTEN):c.1016C>A (p.Pro339Gln) rs1564568679
NM_000314.7(PTEN):c.1078A>G (p.Ser360Gly) rs587781273
NM_000314.7(PTEN):c.209+2T>C
NM_000314.7(PTEN):c.235G>A (p.Ala79Thr) rs202004587
NM_000314.7(PTEN):c.256G>A (p.Ala86Thr) rs1564829780
NM_000314.7(PTEN):c.577C>T (p.Leu193=) rs772631069
NM_000314.7(PTEN):c.592_594ATG[1] (p.Met199del) rs1064793244
NM_000314.7(PTEN):c.613A>G (p.Met205Val) rs776763121
NM_000314.7(PTEN):c.78C>T (p.Thr26=) rs786201280
NM_000314.7(PTEN):c.810G>T (p.Met270Ile) rs1195369834
NM_000314.7(PTEN):c.882T>G (p.Ser294Arg) rs143335584
NM_000314.7(PTEN):c.901G>A (p.Asp301Asn) rs758644748

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