ClinVar Miner

List of variants in gene PTEN reported as likely pathogenic by Invitae

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Gene type:
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Total variants: 30
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HGVS dbSNP
NM_000314.7(PTEN):c.1026+2T>G rs1114167624
NM_000314.7(PTEN):c.1027-2A>G rs1085308041
NM_000314.7(PTEN):c.165-17_165del rs1554897240
NM_000314.7(PTEN):c.1A>G (p.Met1Val) rs1554890324
NM_000314.7(PTEN):c.202T>G (p.Tyr68Asp) rs398123317
NM_000314.7(PTEN):c.209+2T>A rs878853937
NM_000314.7(PTEN):c.210-2A>G rs1564828914
NM_000314.7(PTEN):c.210-6_210-2del rs1564828909
NM_000314.7(PTEN):c.253+1G>A rs587776667
NM_000314.7(PTEN):c.253+2T>A rs1224040268
NM_000314.7(PTEN):c.253+5G>A rs1554897889
NM_000314.7(PTEN):c.254-1G>A rs1057520208
NM_000314.7(PTEN):c.275A>G (p.Asp92Gly)
NM_000314.7(PTEN):c.277C>T (p.His93Tyr)
NM_000314.7(PTEN):c.367C>G (p.His123Asp) rs786204931
NM_000314.7(PTEN):c.367C>T (p.His123Tyr) rs786204931
NM_000314.7(PTEN):c.371G>A (p.Cys124Tyr) rs876660535
NM_000314.7(PTEN):c.384G>C (p.Lys128Asn) rs1114167645
NM_000314.7(PTEN):c.395G>A (p.Gly132Asp) rs121909241
NM_000314.7(PTEN):c.395G>T (p.Gly132Val) rs121909241
NM_000314.7(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000314.7(PTEN):c.492+2T>G rs1554898244
NM_000314.7(PTEN):c.492+2del rs1060500124
NM_000314.7(PTEN):c.493-1G>A rs786204862
NM_000314.7(PTEN):c.493-2A>C rs587781784
NM_000314.7(PTEN):c.518G>C (p.Arg173Pro) rs121913294
NM_000314.7(PTEN):c.802-2del rs886047397
NM_000314.7(PTEN):c.802-4_804delinsA rs1064792911
NM_001304717.5(PTEN):c.1012+1_1012+5del rs1554898238
NM_001304717.5(PTEN):c.773+1dup rs876660082

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