ClinVar Miner

List of variants reported as uncertain significance for PTEN hamartoma tumor syndrome by Mendelics

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Total variants: 18
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NM_000314.4(PTEN):c.-1242G>A rs587779985
NM_000314.4(PTEN):c.-845A>C rs786204861
NM_000314.4(PTEN):c.-868G>C rs587782133
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.235G>A (p.Ala79Thr) rs202004587
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
NM_001126049.1(KLLN):c.316C>A (p.Pro106Thr)
NM_001304718.2(PTEN):c.-495G>A rs1564829780

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