ClinVar Miner

List of variants in gene PTEN reported as likely pathogenic by ClinGen PTEN Variant Curation Expert Panel

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Gene type:
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Total variants: 30
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HGVS dbSNP
NM_000314.4(PTEN):c.801+1delG rs1060500110
NM_000314.6(PTEN):c.802delG (p.Asp268Thrfs) rs587776672
NM_000314.7(PTEN):c.103A>G (p.Met35Val) rs876659443
NM_000314.7(PTEN):c.165-1G>A rs786203847
NM_000314.7(PTEN):c.170T>G (p.Leu57Trp) rs786202398
NM_000314.7(PTEN):c.181C>G (p.His61Asp) rs121909236
NM_000314.7(PTEN):c.209T>C (p.Leu70Pro) rs121909226
NM_000314.7(PTEN):c.270dup (p.Glu91Ter) rs1114167678
NM_000314.7(PTEN):c.314G>A (p.Cys105Tyr) rs587782343
NM_000314.7(PTEN):c.331T>C (p.Trp111Arg) rs398123321
NM_000314.7(PTEN):c.368A>G (p.His123Arg) rs121909222
NM_000314.7(PTEN):c.395G>A (p.Gly132Asp) rs121909241
NM_000314.7(PTEN):c.441_442delinsA (p.Ala148fs) rs1114167641
NM_000314.7(PTEN):c.477G>T (p.Arg159Ser) rs1057519724
NM_000314.7(PTEN):c.492+2T>G rs1554898244
NM_000314.7(PTEN):c.500C>A (p.Thr167Asn) rs397514559
NM_000314.7(PTEN):c.510T>A (p.Ser170Arg) rs121909221
NM_000314.7(PTEN):c.520T>A (p.Tyr174Asn) rs587782316
NM_000314.7(PTEN):c.521A>G (p.Tyr174Cys) rs864622341
NM_000314.7(PTEN):c.564T>A (p.Tyr188Ter) rs606231170
NM_000314.7(PTEN):c.634+5G>C rs138336847
NM_000314.7(PTEN):c.696del (p.Arg233fs) rs587776669
NM_000314.7(PTEN):c.722T>C (p.Phe241Ser) rs121909240
NM_000314.7(PTEN):c.740T>C (p.Leu247Ser) rs1057519368
NM_000314.7(PTEN):c.755A>G (p.Asp252Gly) rs121909239
NM_000314.7(PTEN):c.761_765del (p.Lys254fs) rs606231169
NM_000314.7(PTEN):c.80-1G>C rs786204914
NM_000314.7(PTEN):c.884_900delinsG (p.Leu295fs) rs1114167680
NM_000314.7(PTEN):c.94_96ATT[1] (p.Ile33del) rs1554893765
NM_000314.7(PTEN):c.964A>T (p.Lys322Ter) rs786202004

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