ClinVar Miner

List of variants in gene PTEN studied for endometrial disorder

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) rs371387815 0.00009
NM_000314.8(PTEN):c.1012del (p.Ser338fs) rs1564568660
NM_000314.8(PTEN):c.209+4_209+7del rs398123318
NM_000314.8(PTEN):c.253+1G>A rs587776667
NM_000314.8(PTEN):c.332G>A (p.Trp111Ter)
NM_000314.8(PTEN):c.388C>G (p.Arg130Gly) rs121909224
NM_000314.8(PTEN):c.754G>A (p.Asp252Asn) rs1589663499

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