ClinVar Miner

List of variants reported as benign for Cowden disease by Invitae

Included ClinVar conditions (29):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 116
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HGVS dbSNP gnomAD frequency
NM_006363.6(SEC23B):c.1233+9A>G rs6081189 0.91788
NM_006218.4(PIK3CA):c.1060-17C>A rs2699896 0.55517
NM_000314.8(PTEN):c.1026+32T>G rs555895 0.40232
NM_001382430.1(AKT1):c.175+100A>T rs2494737 0.39797
NM_006363.6(SEC23B):c.1744-20T>A rs3736775 0.33572
NM_001382430.1(AKT1):c.726G>A (p.Glu242=) rs1130233 0.22241
NM_006363.6(SEC23B):c.1467C>G (p.His489Gln) rs2273526 0.12707
NM_003002.4(SDHD):c.315-32T>C rs4151637 0.11444
NM_003002.4(SDHD):c.204C>T (p.Ser68=) rs9919552 0.11428
NM_006218.4(PIK3CA):c.1173A>G (p.Ile391Met) rs2230461 0.10578
NM_006363.6(SEC23B):c.1298C>T (p.Pro433Leu) rs17807673 0.10334
NM_006363.6(SEC23B):c.1405-7C>T rs2273525 0.09089
NM_006218.4(PIK3CA):c.1747-13T>C rs41273619 0.05277
NM_006363.6(SEC23B):c.1276G>A (p.Val426Ile) rs41309927 0.04225
NM_001382430.1(AKT1):c.604C>T (p.Leu202=) rs2230506 0.03899
NM_006363.6(SEC23B):c.2061G>T (p.Leu687=) rs7262532 0.03235
NM_001382430.1(AKT1):c.558C>T (p.Ile186=) rs34670300 0.02248
NM_001382430.1(AKT1):c.567+14G>A rs3730345 0.01364
NM_006218.4(PIK3CA):c.3075C>T (p.Thr1025=) rs17849079 0.01239
NM_001382430.1(AKT1):c.1251C>T (p.Tyr417=) rs139297659 0.01008
NM_006363.6(SEC23B):c.770C>T (p.Thr257Ile) rs146917730 0.01006
NM_001382430.1(AKT1):c.1179C>T (p.Gly393=) rs11555434 0.00876
NM_006363.6(SEC23B):c.834+116A>G rs113825530 0.00772
NM_006363.6(SEC23B):c.1743+168A>G rs111951711 0.00771
NM_006218.4(PIK3CA):c.363C>T (p.Ile121=) rs115746478 0.00769
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591 0.00706
NM_006363.6(SEC23B):c.1503C>T (p.Ile501=) rs147036760 0.00699
NM_003002.4(SDHD):c.312C>T (p.His104=) rs61734352 0.00690
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077 0.00679
NM_006363.6(SEC23B):c.1484G>A (p.Arg495His) rs141588462 0.00677
NM_006363.6(SEC23B):c.816T>C (p.Ile272=) rs115177758 0.00677
NM_006363.6(SEC23B):c.490G>T (p.Val164Leu) rs36023150 0.00602
NM_006363.6(SEC23B):c.1649G>A (p.Arg550Gln) rs111572459 0.00474
NM_006218.4(PIK3CA):c.2298T>G (p.Leu766=) rs116164892 0.00404
NM_006363.6(SEC23B):c.1404+20_1404+21del rs369173250 0.00378
NM_006218.4(PIK3CA):c.*29T>C rs141178472 0.00333
NM_006363.6(SEC23B):c.221+76A>G rs183784857 0.00333
NM_006363.6(SEC23B):c.1666-148G>C rs116352690 0.00329
NM_006363.6(SEC23B):c.835-7A>G rs184484121 0.00317
NM_006218.4(PIK3CA):c.1143C>G (p.Pro381=) rs72561481 0.00303
NM_006218.4(PIK3CA):c.1788A>G (p.Glu596=) rs137902538 0.00299
NM_006363.6(SEC23B):c.993+19G>A rs144225458 0.00281
NM_006218.4(PIK3CA):c.2016-12C>T rs147286696 0.00275
NM_006363.6(SEC23B):c.1512T>C (p.Asn504=) rs138198461 0.00271
NM_001126049.2(KLLN):c.-898G>A rs538728843 0.00262
NM_001382430.1(AKT1):c.1389C>T (p.Ser463=) rs144112075 0.00237
NM_006363.6(SEC23B):c.367-17T>C rs77096313 0.00235
NM_006363.6(SEC23B):c.2298C>T (p.Ala766=) rs77945587 0.00228
NM_001382430.1(AKT1):c.1020C>T (p.Tyr340=) rs144088506 0.00224
NM_006363.6(SEC23B):c.689+10C>T rs200020725 0.00220
NM_006363.6(SEC23B):c.993+10C>G rs201948587 0.00173
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_001382430.1(AKT1):c.957+18G>A rs35314414 0.00155
NM_000314.8(PTEN):c.-9C>G rs11202592 0.00139
NM_000314.8(PTEN):c.79+35C>T rs190707033 0.00130
NM_006218.4(PIK3CA):c.2181A>T (p.Thr727=) rs116336243 0.00117
NM_006363.6(SEC23B):c.66C>T (p.Asn22=) rs144542988 0.00098
NM_001382430.1(AKT1):c.288-14C>T rs138386095 0.00083
NM_001382430.1(AKT1):c.47-12G>A rs17846816 0.00067
NM_001382430.1(AKT1):c.1032C>T (p.Cys344=) rs56289559 0.00063
NM_001382430.1(AKT1):c.432C>T (p.Arg144=) rs17846825 0.00060
NM_006218.4(PIK3CA):c.1747-9C>T rs201779641 0.00046
NM_001382430.1(AKT1):c.1364-11del rs548780765 0.00044
NM_001126049.2(KLLN):c.-840G>A rs563841270 0.00036
NM_001382430.1(AKT1):c.567+12G>A rs201432590 0.00031
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) rs143335584 0.00029
NM_001382430.1(AKT1):c.1363+12C>T rs61761248 0.00029
NM_006218.4(PIK3CA):c.2985C>T (p.Ala995=) rs201884756 0.00018
NM_000314.8(PTEN):c.234C>T (p.Thr78=) rs35917308 0.00016
NM_006218.4(PIK3CA):c.318C>A (p.Gly106=) rs201193059 0.00016
NM_006363.6(SEC23B):c.1993-16G>A rs375390042 0.00013
NM_006218.4(PIK3CA):c.1125A>G (p.Arg375=) rs200568210 0.00012
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587 0.00011
NM_006218.4(PIK3CA):c.2198A>G (p.Lys733Arg) rs181194055 0.00011
NM_000314.8(PTEN):c.579G>A (p.Leu193=) rs568851024 0.00010
NM_001382430.1(AKT1):c.1260+12C>T rs765383641 0.00010
NM_001382430.1(AKT1):c.958-7C>T rs369048965 0.00007
NM_000314.8(PTEN):c.720C>T (p.Tyr240=) rs190070312 0.00006
NM_001382430.1(AKT1):c.958-6G>A rs199770031 0.00006
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098 0.00003
NM_001382430.1(AKT1):c.807C>T (p.Asn269=) rs201044857 0.00002
NM_006363.6(SEC23B):c.773A>G (p.Gln258Arg) rs534770840 0.00001
NC_000010.11:g.(?_87960841)_(87960878_?)del
NC_000020.11:g.18507416A>G
NM_000314.8(PTEN):c.*75del rs878853930
NM_000314.8(PTEN):c.-511G>A rs12573787
NM_000314.8(PTEN):c.164+19dup rs771776683
NM_000314.8(PTEN):c.210-16del rs1859918519
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000314.8(PTEN):c.210-8del rs1554897849
NM_000314.8(PTEN):c.254-8dup rs767806773
NM_000314.8(PTEN):c.492+14del
NM_000314.8(PTEN):c.492+14dup rs1064793690
NM_000314.8(PTEN):c.493-12del
NM_000314.8(PTEN):c.493-12dup rs756623620
NM_000314.8(PTEN):c.802-3del rs34003473
NM_000314.8(PTEN):c.802-3dup rs34003473
NM_000314.8(PTEN):c.802-51_802-14del rs557364463
NM_001126049.2(KLLN):c.-897A>G rs869312983
NM_001382430.1(AKT1):c.175+18C>G rs3730358
NM_001382430.1(AKT1):c.175+18C>T rs3730358
NM_001382430.1(AKT1):c.176-23_176-17del rs763840311
NM_003002.4(SDHD):c.315-13del rs2135277277
NM_003002.4(SDHD):c.315-13dup rs2135277277
NM_003002.4(SDHD):c.52+8del rs2135264855
NM_003002.4(SDHD):c.53-52_53-49del rs562618773
NM_006218.4(PIK3CA):c.1809C>T (p.Asp603=) rs558223824
NM_006218.4(PIK3CA):c.2188-7dup rs35213509
NM_006218.4(PIK3CA):c.814-15del
NM_006363.6(SEC23B):c.1110-13dup
NM_006363.6(SEC23B):c.1744-17G>A
NM_006363.6(SEC23B):c.604-4del
NM_006363.6(SEC23B):c.604-4dup rs750339397
NM_006363.6(SEC23B):c.604-5_604-4dup rs750339397
NM_006363.6(SEC23B):c.604-6_604-4del

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