ClinVar Miner

List of variants studied for Cowden syndrome 1

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ClinVar version:
Total variants: 149
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HGVS dbSNP
GRCh37/hg19 10q23.31(chr10:89653441-89654197)
NM_000314.6(PTEN):c.802delG (p.Asp268Thrfs) rs587776672
NM_000314.7(PTEN):c.*10del rs756681683
NM_000314.7(PTEN):c.*10dup rs756681683
NM_000314.7(PTEN):c.-111G>T rs761148721
NM_000314.7(PTEN):c.-499_-497GGC[6] rs1237307954
NM_000314.7(PTEN):c.-734G>A rs886047384
NM_000314.7(PTEN):c.-764G>A rs587776674
NM_000314.7(PTEN):c.-834C>T rs587779994
NM_000314.7(PTEN):c.-861G>T rs587776675
NM_000314.7(PTEN):c.-9C>G rs11202592
NM_000314.7(PTEN):c.1004G>T (p.Arg335Leu) rs1085308040
NM_000314.7(PTEN):c.1016del (p.Pro339fs) rs1554825643
NM_000314.7(PTEN):c.1026+1G>A rs786201041
NM_000314.7(PTEN):c.1026+1G>C rs786201041
NM_000314.7(PTEN):c.1027-2A>C rs1085308041
NM_000314.7(PTEN):c.1061C>T (p.Pro354Leu) rs375709098
NM_000314.7(PTEN):c.1069C>A (p.Pro357Thr) rs876661264
NM_000314.7(PTEN):c.1093G>A (p.Val365Ile) rs758542021
NM_000314.7(PTEN):c.1197A>G (p.Gln399=) rs374684043
NM_000314.7(PTEN):c.165-1G>C rs786203847
NM_000314.7(PTEN):c.165-2A>G rs1085308043
NM_000314.7(PTEN):c.165-8_165-4del rs760571273
NM_000314.7(PTEN):c.202T>C (p.Tyr68His) rs398123317
NM_000314.7(PTEN):c.203A>C (p.Tyr68Ser) rs876660634
NM_000314.7(PTEN):c.209+4_209+7del rs398123318
NM_000314.7(PTEN):c.209+5G>A rs1114167650
NM_000314.7(PTEN):c.210-12C>T rs766570103
NM_000314.7(PTEN):c.210-17T>C rs750987148
NM_000314.7(PTEN):c.210-1G>A rs1114167621
NM_000314.7(PTEN):c.210-26A>G rs776849737
NM_000314.7(PTEN):c.210-26A>T rs776849737
NM_000314.7(PTEN):c.210-39A>G rs370918174
NM_000314.7(PTEN):c.210-8del rs1554897849
NM_000314.7(PTEN):c.210-9T>C rs751744545
NM_000314.7(PTEN):c.235G>T (p.Ala79Ser) rs202004587
NM_000314.7(PTEN):c.253+1G>A rs587776667
NM_000314.7(PTEN):c.253+1G>T rs587776667
NM_000314.7(PTEN):c.253+5G>A rs1554897889
NM_000314.7(PTEN):c.253+5G>T rs1554897889
NM_000314.7(PTEN):c.254-30dup rs77494260
NM_000314.7(PTEN):c.254-51A>T rs1554898040
NM_000314.7(PTEN):c.254-72A>T rs1554898037
NM_000314.7(PTEN):c.261A>G (p.Gln87=) rs149772796
NM_000314.7(PTEN):c.265C>T (p.Pro89Ser) rs587783059
NM_000314.7(PTEN):c.368A>G (p.His123Arg) rs121909222
NM_000314.7(PTEN):c.370T>C (p.Cys124Arg) rs121909223
NM_000314.7(PTEN):c.385G>C (p.Gly129Arg) rs786204929
NM_000314.7(PTEN):c.386G>A (p.Gly129Glu) rs121909218
NM_000314.7(PTEN):c.388C>T (p.Arg130Ter) rs121909224
NM_000314.7(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.7(PTEN):c.395G>T (p.Gly132Val) rs121909241
NM_000314.7(PTEN):c.40A>G (p.Arg14Gly) rs1085308047
NM_000314.7(PTEN):c.464A>C (p.Tyr155Ser) rs1060500126
NM_000314.7(PTEN):c.492+1G>T rs1554898242
NM_000314.7(PTEN):c.492+2T>G rs1554898244
NM_000314.7(PTEN):c.493-12dup rs756623620
NM_000314.7(PTEN):c.493-2A>G rs587781784
NM_000314.7(PTEN):c.493-31A>G rs550267891
NM_000314.7(PTEN):c.493-52A>G rs1043121029
NM_000314.7(PTEN):c.510T>A (p.Ser170Arg) rs121909221
NM_000314.7(PTEN):c.545T>C (p.Leu182Ser) rs794729664
NM_000314.7(PTEN):c.579G>A (p.Leu193=) rs568851024
NM_000314.7(PTEN):c.633C>A (p.Cys211Ter) rs121909232
NM_000314.7(PTEN):c.634+1G>C rs1114167622
NM_000314.7(PTEN):c.634+2T>C rs727504114
NM_000314.7(PTEN):c.634+4A>T rs1554900675
NM_000314.7(PTEN):c.634+5G>C rs138336847
NM_000314.7(PTEN):c.635-16G>A rs750772657
NM_000314.7(PTEN):c.635-1G>C rs876661024
NM_000314.7(PTEN):c.640C>T (p.Gln214Ter) rs121909227
NM_000314.7(PTEN):c.654C>A (p.Cys218Ter) rs1554825165
NM_000314.7(PTEN):c.696del (p.Arg233fs) rs587776669
NM_000314.7(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.7(PTEN):c.720C>T (p.Tyr240=) rs190070312
NM_000314.7(PTEN):c.738G>A (p.Pro246=) rs774364894
NM_000314.7(PTEN):c.766G>T (p.Glu256Ter) rs121909228
NM_000314.7(PTEN):c.77C>T (p.Thr26Ile)
NM_000314.7(PTEN):c.79+7A>G rs374331677
NM_000314.7(PTEN):c.80-3C>G rs1554893746
NM_000314.7(PTEN):c.801+23G>A rs116160352
NM_000314.7(PTEN):c.801+8C>G rs1057517630
NM_000314.7(PTEN):c.802-12T>C rs587781129
NM_000314.7(PTEN):c.802-2A>G rs587782455
NM_000314.7(PTEN):c.802-2A>T rs587782455
NM_000314.7(PTEN):c.802-3T>A rs587780712
NM_000314.7(PTEN):c.802-51_802-14del rs557364463
NM_000314.7(PTEN):c.802-54_802-16del rs1028746954
NM_000314.7(PTEN):c.865_866insCT (p.Lys289fs) rs1554825530
NM_000314.7(PTEN):c.914G>A (p.Ser305Asn) rs587780007
NM_000314.7(PTEN):c.968dup (p.Asn323fs) rs121913291
NM_000314.7(PTEN):c.975_988delinsCGCTT (p.Asp326_Lys330delinsAlaTer) rs1114167640
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.1026+38dup rs767896771
NM_000314.8(PTEN):c.103A>C (p.Met35Leu)
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098
NM_000314.8(PTEN):c.1078A>G (p.Ser360Gly) rs587781273
NM_000314.8(PTEN):c.165-24TTTG[2] rs786204877
NM_000314.8(PTEN):c.180del (p.Lys60fs) rs1589640429
NM_000314.8(PTEN):c.210-2_211del rs1554897854
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000314.8(PTEN):c.234C>T (p.Thr78=) rs35917308
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587
NM_000314.8(PTEN):c.254-21G>C
NM_000314.8(PTEN):c.269T>C (p.Phe90Ser)
NM_000314.8(PTEN):c.370T>A (p.Cys124Ser) rs121909223
NM_000314.8(PTEN):c.457G>C (p.Asp153His)
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000314.8(PTEN):c.529T>A (p.Tyr177Asn)
NM_000314.8(PTEN):c.613A>G (p.Met205Val) rs776763121
NM_000314.8(PTEN):c.685T>A (p.Ser229Thr) rs587781998
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000314.8(PTEN):c.781C>G (p.Gln261Glu)
NM_000314.8(PTEN):c.78C>T (p.Thr26=) rs786201280
NM_000314.8(PTEN):c.79+23_79+25del rs1221062997
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) rs143335584
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) rs371387815
NM_000314.8(PTEN):c.951_954ACTT[1] (p.Leu318_Thr319insTer) rs146650273
NM_001126049.2(KLLN):c.-806A>C rs587782761
NM_001126049.2(KLLN):c.-812G>A rs587779981
NM_001126049.2(KLLN):c.-812G>T rs587779981
NM_001126049.2(KLLN):c.-887C>T rs786204920
NM_001126049.2(KLLN):c.-898G>A rs538728843
NM_001304718.2(PTEN):c.-362del rs121913292
NM_001304718.2(PTEN):c.-404_-400del rs587776666
NM_001304718.2(PTEN):c.-447_-443dup rs1554898085
NM_001304718.2(PTEN):c.-451dup rs1554898083
NM_001304718.2(PTEN):c.-541-5489T>C rs121909226
NM_001304718.2(PTEN):c.-58_-57delinsAT rs397515374
NM_001304718.2(PTEN):c.-602T>G rs121909225
NM_001304718.2(PTEN):c.-666dup rs587776671
NM_001304718.2(PTEN):c.-6del rs587776670
NM_001304718.2(PTEN):c.-85del rs587776673
NM_005228.5(EGFR):c.977G>T (p.Cys326Phe) rs886037891
NM_006218.4(PIK3CA):c.-138C>T rs149946088
NM_006218.4(PIK3CA):c.1060-9T>C rs750875731
NM_006218.4(PIK3CA):c.1146-30G>A rs8192676
NM_006218.4(PIK3CA):c.168C>T (p.Tyr56=) rs200868796
NM_006218.4(PIK3CA):c.1743C>T (p.Ala581=) rs370692448
NM_006218.4(PIK3CA):c.1747-9C>T rs201779641
NM_006218.4(PIK3CA):c.1767T>C (p.Asp589=) rs199540873
NM_006218.4(PIK3CA):c.1850G>A (p.Arg617Gln) rs3865687
NM_006218.4(PIK3CA):c.2016-12C>T rs147286696
NM_006218.4(PIK3CA):c.2016-29A>T rs374926790
NM_006218.4(PIK3CA):c.2418T>C (p.Asp806=) rs199693043
NM_006218.4(PIK3CA):c.2597T>G (p.Leu866Trp) rs1576947658
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279
PTEN, CYS124SER
PTEN, DEL

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