ClinVar Miner

List of variants reported as likely pathogenic for PTEN hamartoma tumor syndrome by Mendelics

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_000314.7(PTEN):c.209+2T>C rs878853937
NM_000314.7(PTEN):c.344A>G (p.Asp115Gly) rs869312775
NM_000314.7(PTEN):c.385G>A (p.Gly129Arg) rs786204929
NM_000314.7(PTEN):c.599T>C (p.Phe200Ser) rs786204867
NM_000314.7(PTEN):c.71A>G (p.Asp24Gly) rs797044910
NM_000314.8(PTEN):c.1034T>G (p.Leu345Arg)
NM_001304718.2(PTEN):c.-612_-610ATT[1] rs1554893765
NM_003000.2(SDHB):c.650G>A (p.Arg217His) rs747518441
NM_006218.4(PIK3CA):c.2597T>G (p.Leu866Trp)

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