ClinVar Miner

List of variants in gene PTEN reported as likely benign by Sema4, Sema4

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Gene type:
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Total variants: 23
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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.-701G>A rs1554890059 0.00019
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587 0.00011
NM_000314.8(PTEN):c.579G>A (p.Leu193=) rs568851024 0.00010
NM_000314.8(PTEN):c.-714G>A rs587779989 0.00006
NM_000314.8(PTEN):c.-301C>T rs1000303263 0.00003
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098 0.00003
NM_000314.8(PTEN):c.855A>G (p.Glu285=) rs751888926 0.00003
NM_000314.8(PTEN):c.1086A>G (p.Ser362=) rs761948873 0.00002
NM_000314.8(PTEN):c.210-12C>T rs766570103 0.00001
NM_000314.8(PTEN):c.210-9T>C rs751744545 0.00001
NM_000314.8(PTEN):c.360A>C (p.Ala120=) rs759485888 0.00001
NM_000314.8(PTEN):c.723T>C (p.Phe241=) rs17849090 0.00001
NM_000314.8(PTEN):c.783G>A (p.Gln261=) rs760146269 0.00001
NM_000314.8(PTEN):c.-231_-223dup rs1056356598
NM_000314.8(PTEN):c.-500GGC[7] rs1237307954
NM_000314.8(PTEN):c.1044A>G (p.Thr348=) rs747606399
NM_000314.8(PTEN):c.1098A>C (p.Thr366=) rs1554826045
NM_000314.8(PTEN):c.165-8_165-4del rs760571273
NM_000314.8(PTEN):c.253+4_253+7del rs876659695
NM_000314.8(PTEN):c.417A>G (p.Leu139=) rs1057520407
NM_000314.8(PTEN):c.54G>A (p.Glu18=) rs1554890388
NM_000314.8(PTEN):c.802-51_802-13del rs1273383569

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