ClinVar Miner

List of variants in gene PTEN reported as not provided for Macrocephaly-autism syndrome; Cowden syndrome 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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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.202T>C (p.Tyr68His)	rs398123317

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