ClinVar Miner

List of variants in gene PTEN reported by Counsyl

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 49
Download table as spreadsheet
HGVS dbSNP
NM_000314.4(PTEN):c.-764G>A rs587776674
NM_000314.4(PTEN):c.-834C>T rs587779994
NM_000314.4(PTEN):c.1069C>A (p.Pro357Thr) rs876661264
NM_000314.4(PTEN):c.1078A>G (p.Ser360Gly) rs587781273
NM_000314.4(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000314.6(PTEN):c.*10delT rs756681683
NM_000314.6(PTEN):c.*10dup rs756681683
NM_000314.6(PTEN):c.-111G>T rs761148721
NM_000314.6(PTEN):c.-487_-485dup rs1237307954
NM_000314.6(PTEN):c.-9C>G rs11202592
NM_000314.6(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.6(PTEN):c.1004G>T (p.Arg335Leu) rs1085308040
NM_000314.6(PTEN):c.1026+38dupT rs767896771
NM_000314.6(PTEN):c.1061C>T (p.Pro354Leu) rs375709098
NM_000314.6(PTEN):c.1197A>G (p.Gln399=) rs374684043
NM_000314.6(PTEN):c.165-13_165-10delGTTT rs786204877
NM_000314.6(PTEN):c.165-8_165-4delGTTTT rs760571273
NM_000314.6(PTEN):c.210-12C>T rs766570103
NM_000314.6(PTEN):c.210-17T>C rs750987148
NM_000314.6(PTEN):c.210-26A>G rs776849737
NM_000314.6(PTEN):c.210-26A>T rs776849737
NM_000314.6(PTEN):c.210-7_210-3del5 rs587780544
NM_000314.6(PTEN):c.210-9T>C rs751744545
NM_000314.6(PTEN):c.234C>T (p.Thr78=) rs35917308
NM_000314.6(PTEN):c.261A>G (p.Gln87=) rs149772796
NM_000314.6(PTEN):c.300dup (p.Ile101Tyrfs) rs1554898083
NM_000314.6(PTEN):c.304_308dup (p.Phe104Asnfs) rs1554898085
NM_000314.6(PTEN):c.388C>T (p.Arg130Ter) rs121909224
NM_000314.6(PTEN):c.493-12dup rs756623620
NM_000314.6(PTEN):c.579G>A (p.Leu193=) rs568851024
NM_000314.6(PTEN):c.613A>G (p.Met205Val) rs776763121
NM_000314.6(PTEN):c.633C>A (p.Cys211Ter) rs121909232
NM_000314.6(PTEN):c.635-16G>A rs750772657
NM_000314.6(PTEN):c.720C>T (p.Tyr240=) rs190070312
NM_000314.6(PTEN):c.738G>A (p.Pro246=) rs774364894
NM_000314.6(PTEN):c.78C>T (p.Thr26=) rs786201280
NM_000314.6(PTEN):c.79+23_79+25delCTC rs1221062997
NM_000314.6(PTEN):c.801+23G>A rs116160352
NM_000314.6(PTEN):c.802-12T>C rs587781129
NM_000314.6(PTEN):c.802-3T>A rs587780712
NM_000314.6(PTEN):c.802-54_802-16del rs1028746954
NM_000314.6(PTEN):c.882T>G (p.Ser294Arg) rs143335584
NM_000314.6(PTEN):c.892C>G (p.Gln298Glu) rs371387815
NM_000314.6(PTEN):c.914G>A (p.Ser305Asn) rs587780007
NM_000314.7(PTEN):c.1061C>A (p.Pro354Gln) rs375709098
NM_000314.7(PTEN):c.1093G>A (p.Val365Ile) rs758542021
NM_000314.7(PTEN):c.235G>A (p.Ala79Thr) rs202004587
NM_000314.7(PTEN):c.235G>T (p.Ala79Ser) rs202004587
NM_000314.7(PTEN):c.801+8C>G rs1057517630

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.