ClinVar Miner

List of variants in gene PTEN reported as likely pathogenic for complex neurodevelopmental disorder

Included ClinVar conditions (295):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.-116dup rs1564801388
NM_000314.8(PTEN):c.-60dup rs1564801473

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