ClinVar Miner

List of variants reported as likely benign for PTEN hamartoma tumor syndrome by ClinGen PTEN Variant Curation Expert Panel

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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NM_000314.6(PTEN):c.165-13_165-10delGTTT rs786204877
NM_000314.7(PTEN):c.-909T>C rs550385924
NM_000314.7(PTEN):c.-975G>C rs587780001
NM_000314.7(PTEN):c.1104T>C (p.Asp368=) rs35979531
NM_000314.7(PTEN):c.132C>T (p.Gly44=) rs150651961
NM_000314.7(PTEN):c.18A>G (p.Lys6=) rs876660391
NM_000314.7(PTEN):c.235G>A (p.Ala79Thr) rs202004587
NM_000314.7(PTEN):c.254-39G>T rs35034871
NM_000314.7(PTEN):c.360A>C (p.Ala120=) rs759485888
NM_000314.7(PTEN):c.651C>T (p.Val217=) rs886038278
NM_000314.7(PTEN):c.801+23G>A rs116160352
NM_001126049.1(KLLN):c.-794_-783del rs587781340
NM_001126049.1(KLLN):c.-840G>A rs563841270
NM_001126049.1(KLLN):c.-898G>A rs538728843
NM_001126049.1(KLLN):c.-956G>T rs34149102

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