ClinVar Miner

List of variants studied for glioma susceptibility 2 by Baylor Genetics

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 72
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) rs371387815 0.00009
NM_000314.8(PTEN):c.-765G>A rs587776674 0.00002
NM_000314.8(PTEN):c.1093G>A (p.Val365Ile) rs758542021 0.00001
NM_000314.8(PTEN):c.1171C>T (p.Pro391Ser) rs786203911 0.00001
NM_000314.8(PTEN):c.349A>C (p.Asn117His) rs771310592 0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000314.8(PTEN):c.451G>A (p.Ala151Thr) rs1859982098 0.00001
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) rs121913293 0.00001
NM_000314.8(PTEN):c.527A>G (p.Tyr176Cys) rs757498880 0.00001
NM_000314.8(PTEN):c.613A>G (p.Met205Val) rs776763121 0.00001
NM_000314.8(PTEN):c.823G>A (p.Val275Ile) rs1410198544 0.00001
NM_000314.8(PTEN):c.887G>A (p.Cys296Tyr) rs1060500121 0.00001
NM_000314.8(PTEN):c.-39TC[2] rs1064795965
NM_000314.8(PTEN):c.-931G>A rs587781959
NM_000314.8(PTEN):c.1012del (p.Ser338fs) rs1564568660
NM_000314.8(PTEN):c.1056G>T (p.Glu352Asp)
NM_000314.8(PTEN):c.105_106delinsAC (p.Met35_Gly36delinsIleArg) rs786202517
NM_000314.8(PTEN):c.1066A>G (p.Asn356Asp) rs587782345
NM_000314.8(PTEN):c.1066A>T (p.Asn356Tyr) rs587782345
NM_000314.8(PTEN):c.1070C>T (p.Pro357Leu)
NM_000314.8(PTEN):c.1081A>C (p.Ser361Arg) rs1472028496
NM_000314.8(PTEN):c.1130A>T (p.Tyr377Phe) rs751286806
NM_000314.8(PTEN):c.1131_1132del (p.Tyr377_Arg378delinsTer) rs1860737554
NM_000314.8(PTEN):c.1189C>T (p.His397Tyr) rs1589669413
NM_000314.8(PTEN):c.1198A>G (p.Ile400Val) rs863224665
NM_000314.8(PTEN):c.140G>A (p.Arg47Lys) rs1057518425
NM_000314.8(PTEN):c.144C>A (p.Asn48Lys) rs762518389
NM_000314.8(PTEN):c.149T>C (p.Ile50Thr) rs1554893824
NM_000314.8(PTEN):c.165-5T>G
NM_000314.8(PTEN):c.192T>G (p.His64Gln)
NM_000314.8(PTEN):c.202T>C (p.Tyr68His) rs398123317
NM_000314.8(PTEN):c.208C>T (p.Leu70Phe) rs794727480
NM_000314.8(PTEN):c.253+1G>A rs587776667
NM_000314.8(PTEN):c.253+5G>A rs1554897889
NM_000314.8(PTEN):c.278_322del (p.His93_Asp107del)
NM_000314.8(PTEN):c.293T>G (p.Leu98Arg) rs781647403
NM_000314.8(PTEN):c.298C>G (p.Leu100Val) rs1589646100
NM_000314.8(PTEN):c.302T>C (p.Ile101Thr) rs1339631701
NM_000314.8(PTEN):c.328C>T (p.Gln110Ter) rs1114167629
NM_000314.8(PTEN):c.353_354insGA (p.His118fs)
NM_000314.8(PTEN):c.359del (p.Ala120fs)
NM_000314.8(PTEN):c.371G>C (p.Cys124Ser)
NM_000314.8(PTEN):c.377C>T (p.Ala126Val) rs1114167656
NM_000314.8(PTEN):c.382A>G (p.Lys128Glu) rs1554898138
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp) rs121909241
NM_000314.8(PTEN):c.395G>T (p.Gly132Val) rs121909241
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg) rs786201044
NM_000314.8(PTEN):c.40dup (p.Arg14fs) rs587776671
NM_000314.8(PTEN):c.412dup (p.Tyr138fs)
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000314.8(PTEN):c.467G>T (p.Gly156Val)
NM_000314.8(PTEN):c.473_476dup (p.Arg159fs)
NM_000314.8(PTEN):c.48_50del (p.Tyr16_Gln17delinsTer)
NM_000314.8(PTEN):c.490_491del (p.Lys164fs) rs786204900
NM_000314.8(PTEN):c.493G>A (p.Gly165Arg) rs587782603
NM_000314.8(PTEN):c.496G>A (p.Val166Ile) rs780943695
NM_000314.8(PTEN):c.565A>T (p.Arg189Ter) rs1554900615
NM_000314.8(PTEN):c.622G>A (p.Gly208Ser) rs1860425648
NM_000314.8(PTEN):c.635-5T>G
NM_000314.8(PTEN):c.677C>T (p.Ser226Phe) rs2132276728
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.8(PTEN):c.701G>A (p.Arg234Gln) rs121909235
NM_000314.8(PTEN):c.703G>A (p.Glu235Lys)
NM_000314.8(PTEN):c.755A>G (p.Asp252Gly) rs121909239
NM_000314.8(PTEN):c.838A>G (p.Ile280Val) rs1474354667
NM_000314.8(PTEN):c.848C>T (p.Pro283Leu) rs1860619820
NM_000314.8(PTEN):c.874A>G (p.Asn292Asp)
NM_000314.8(PTEN):c.886T>C (p.Cys296Arg) rs786202207
NM_000314.8(PTEN):c.89C>T (p.Pro30Leu) rs1589617164
NM_000314.8(PTEN):c.906C>G (p.Ser302Arg) rs876660906
NM_000314.8(PTEN):c.914G>A (p.Ser305Asn) rs587780007
NM_000314.8(PTEN):c.941A>C (p.Glu314Ala) rs1171478249

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.