ClinVar Miner

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

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001126049.2(KLLN):c.-956G>T rs34149102 0.00683
NM_001126049.2(KLLN):c.-898G>A rs538728843 0.00262
NM_000314.8(PTEN):c.132C>T (p.Gly44=) rs150651961 0.00168
NM_000314.8(PTEN):c.1104T>C (p.Asp368=) rs35979531 0.00158
NM_000314.8(PTEN):c.801+23G>A rs116160352 0.00091
NM_001126049.2(KLLN):c.-840G>A rs563841270 0.00036
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) rs143335584 0.00029
NM_000314.6(PTEN):c.-909T>C rs550385924 0.00013
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587 0.00011
NM_000314.8(PTEN):c.254-39G>T rs35034871 0.00011
NM_000314.8(PTEN):c.579G>A (p.Leu193=) rs568851024 0.00010
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) rs371387815 0.00009
NM_000314.8(PTEN):c.720C>T (p.Tyr240=) rs190070312 0.00006
NM_000314.8(PTEN):c.-837C>T rs786204940 0.00005
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098 0.00003
NM_000314.8(PTEN):c.1078A>G (p.Ser360Gly) rs587781273 0.00002
NM_000314.8(PTEN):c.360A>C (p.Ala120=) rs759485888 0.00001
NM_000314.8(PTEN):c.693C>T (p.Pro231=) rs1064795327 0.00001
NM_000314.8(PTEN):c.75G>A (p.Leu25=) rs786201506 0.00001
NM_000314.8(PTEN):c.79+7A>G rs374331677 0.00001
NM_000314.8(PTEN):c.-735G>A rs886047384
NM_000314.8(PTEN):c.165-24TTTG[2] rs786204877
NM_000314.8(PTEN):c.18A>G (p.Lys6=) rs876660391
NM_000314.8(PTEN):c.253+4_253+7del rs876659695
NM_000314.8(PTEN):c.577C>T (p.Leu193=) rs772631069
NM_000314.8(PTEN):c.651C>T (p.Val217=) rs886038278
NM_001126049.2(KLLN):c.-1007C>G rs587780001
NM_001126049.2(KLLN):c.-1007C>T rs587780001
NM_001126049.2(KLLN):c.-794_-783del rs587781340
NM_001126049.2(KLLN):c.-812G>A rs587779981

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