ClinVar Miner

List of variants in gene PTEN studied for developmental disorder of mental health

Included ClinVar conditions (728):
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.235G>A (p.Ala79Thr) rs202004587 0.00011
NM_000314.8(PTEN):c.269T>C (p.Phe90Ser) rs1859965098 0.00001
NM_000314.8(PTEN):c.-116dup rs1564801388
NM_000314.8(PTEN):c.-60dup rs1564801473
NM_000314.8(PTEN):c.203A>G (p.Tyr68Cys) rs876660634
NM_000314.8(PTEN):c.377C>T (p.Ala126Val) rs1114167656
NM_000314.8(PTEN):c.634+5G>A rs138336847

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