ClinVar Miner

List of variants reported as likely benign for cerebral cavernous malformation

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 167
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_019004.2(ANKIB1):c.-605T>C rs143215997 0.00775
NM_194454.3(KRIT1):c.-356G>A rs117169559 0.00740
NM_031443.4(CCM2):c.984G>A (p.Gly328=) rs112504276 0.00732
NM_194456.1(KRIT1):c.*1363T>G rs148980420 0.00344
NM_007217.4(PDCD10):c.395+46C>T rs200959967 0.00339
NM_194456.1(KRIT1):c.-701C>T rs553392669 0.00245
NM_194454.3(KRIT1):c.1095A>G (p.Gly365=) rs143710815 0.00238
NM_007217.4(PDCD10):c.*285G>T rs190941416 0.00236
NM_194454.3(KRIT1):c.-43C>T rs193080208 0.00215
NM_194454.3(KRIT1):c.846-5dup rs373763254 0.00214
NM_194454.3(KRIT1):c.1245T>G (p.Ile415Met) rs41278788 0.00189
NM_194456.1(KRIT1):c.*1750C>T rs188612683 0.00188
NM_194454.3(KRIT1):c.*137del rs543954194 0.00165
NM_194454.3(KRIT1):c.1140G>A (p.Thr380=) rs140009885 0.00146
NM_194454.3(KRIT1):c.*132T>G rs572414111 0.00138
NM_031443.4(CCM2):c.980A>G (p.Asn327Ser) rs150428392 0.00128
NM_031443.4(CCM2):c.1217C>T (p.Thr406Met) rs150734280 0.00119
NM_194454.3(KRIT1):c.1146+8A>T rs182762651 0.00093
NM_194454.3(KRIT1):c.77G>A (p.Arg26Gln) rs34358665 0.00088
NM_194454.3(KRIT1):c.2207C>T (p.Ser736Leu) rs151059782 0.00081
NM_007217.4(PDCD10):c.574G>A (p.Val192Ile) rs151267430 0.00061
NM_031443.4(CCM2):c.735C>T (p.Ser245=) rs199682975 0.00052
NM_001122752.2(SERPINI1):c.-19+117A>G rs145045884 0.00043
NM_194454.3(KRIT1):c.1412-9G>A rs199932606 0.00043
NM_194454.3(KRIT1):c.302G>T (p.Gly101Val) rs147568834 0.00042
NM_194454.3(KRIT1):c.235A>G (p.Ile79Val) rs116801031 0.00038
NM_194454.3(KRIT1):c.-2-7T>C rs550533414 0.00029
NM_194454.3(KRIT1):c.845+10C>T rs372125478 0.00026
NM_194454.3(KRIT1):c.587C>G (p.Ala196Gly) rs549707288 0.00024
NM_194454.3(KRIT1):c.1326C>G (p.Thr442=) rs150912644 0.00022
NM_031443.4(CCM2):c.126G>A (p.Leu42=) rs146579519 0.00019
NM_194454.3(KRIT1):c.*234G>A rs574668355 0.00019
NM_194454.3(KRIT1):c.1914A>G (p.Ala638=) rs146106391 0.00019
NM_031443.4(CCM2):c.1284C>T (p.Ile428=) rs144918172 0.00018
NM_194454.3(KRIT1):c.510A>G (p.Gln170=) rs200684252 0.00018
NM_194454.3(KRIT1):c.1384A>G (p.Thr462Ala) rs141514714 0.00016
NM_194454.3(KRIT1):c.845+9T>G rs140152251 0.00015
NM_194454.3(KRIT1):c.444T>C (p.His148=) rs746035680 0.00013
NM_031443.4(CCM2):c.568G>A (p.Val190Met) rs200358025 0.00012
NM_031443.4(CCM2):c.1238C>T (p.Ser413Leu) rs143962510 0.00011
NM_194454.3(KRIT1):c.1752C>T (p.Ile584=) rs148836047 0.00011
NM_194454.3(KRIT1):c.1809T>C (p.His603=) rs149754162 0.00011
NM_194454.3(KRIT1):c.2068T>C (p.Leu690=) rs370766145 0.00009
NM_031443.4(CCM2):c.357C>T (p.Asn119=) rs372638007 0.00007
NM_194454.3(KRIT1):c.1355G>A (p.Arg452His) rs201272513 0.00007
NM_194454.3(KRIT1):c.168G>A (p.Thr56=) rs145901266 0.00007
NM_194454.3(KRIT1):c.264A>G (p.Gly88=) rs201877439 0.00007
NM_194454.3(KRIT1):c.485+12C>T rs371895905 0.00007
NM_194454.3(KRIT1):c.1063C>T (p.Leu355Phe) rs182763805 0.00006
NM_031443.4(CCM2):c.746-17C>T rs376964561 0.00005
NM_194454.3(KRIT1):c.30A>G (p.Ala10=) rs148129616 0.00005
NM_194454.3(KRIT1):c.485+13G>A rs758014337 0.00005
NM_194454.3(KRIT1):c.582A>G (p.Ala194=) rs369744043 0.00005
NM_194454.3(KRIT1):c.594A>G (p.Glu198=) rs769941203 0.00005
NM_031443.4(CCM2):c.31-14G>A rs773900256 0.00004
NM_031443.4(CCM2):c.612C>T (p.Val204=) rs181474100 0.00004
NM_031443.4(CCM2):c.48A>T (p.Pro16=) rs142320735 0.00003
NM_031443.4(CCM2):c.783C>T (p.Tyr261=) rs758672246 0.00003
NM_194454.3(KRIT1):c.126T>C (p.Ile42=) rs1293064262 0.00003
NM_194454.3(KRIT1):c.1428A>G (p.Pro476=) rs781533650 0.00003
NM_031443.4(CCM2):c.1134C>T (p.Arg378=) rs148192057 0.00002
NM_031443.4(CCM2):c.120C>T (p.Arg40=) rs1364634508 0.00002
NM_031443.4(CCM2):c.549G>A (p.Ser183=) rs145671290 0.00002
NM_031443.4(CCM2):c.684T>C (p.Phe228=) rs1011954212 0.00002
NM_194454.3(KRIT1):c.1134A>T (p.Pro378=) rs752464613 0.00002
NM_194454.3(KRIT1):c.1377A>G (p.Gln459=) rs775375977 0.00002
NM_007217.4(PDCD10):c.213C>T (p.Ser71=) rs201316215 0.00001
NM_007217.4(PDCD10):c.270G>A (p.Glu90=) rs2475721826 0.00001
NM_007217.4(PDCD10):c.312C>T (p.Asn104=) rs759198421 0.00001
NM_007217.4(PDCD10):c.45A>G (p.Thr15=) rs751478724 0.00001
NM_007217.4(PDCD10):c.475-4del rs772163237 0.00001
NM_007217.4(PDCD10):c.573C>T (p.Phe191=) rs778703454 0.00001
NM_007217.4(PDCD10):c.96+17T>C rs1208666143 0.00001
NM_031443.4(CCM2):c.1023C>A (p.Leu341=) rs1174989938 0.00001
NM_031443.4(CCM2):c.1026C>T (p.Tyr342=) rs556953955 0.00001
NM_031443.4(CCM2):c.180C>T (p.Ser60=) rs763778029 0.00001
NM_031443.4(CCM2):c.204+8G>A rs376855404 0.00001
NM_031443.4(CCM2):c.288+11C>T rs1216710853 0.00001
NM_031443.4(CCM2):c.289-14G>A rs1562907342 0.00001
NM_031443.4(CCM2):c.472+13A>G rs768670587 0.00001
NM_031443.4(CCM2):c.472+16G>A rs1798687606 0.00001
NM_031443.4(CCM2):c.745+19G>A rs781610782 0.00001
NM_031443.4(CCM2):c.777G>A (p.Glu259=) rs765305537 0.00001
NM_194454.3(KRIT1):c.*57G>A rs529937203 0.00001
NM_194454.3(KRIT1):c.-312A>G rs538102163 0.00001
NM_194454.3(KRIT1):c.1176A>G (p.Pro392=) rs538610091 0.00001
NM_194454.3(KRIT1):c.1329A>G (p.Thr443=) rs1366839369 0.00001
NM_194454.3(KRIT1):c.213C>T (p.Tyr71=) rs759116201 0.00001
NM_194454.3(KRIT1):c.612C>T (p.Asn204=) rs907176069 0.00001
NM_194454.3(KRIT1):c.675A>T (p.Ala225=) rs770622492 0.00001
NM_194454.3(KRIT1):c.729+8T>C rs1208375976 0.00001
NM_194454.3(KRIT1):c.885C>T (p.Ser295=) rs761571988 0.00001
NM_194456.1(KRIT1):c.*1530T>C rs75182503 0.00001
NM_007217.4(PDCD10):c.150+11A>G rs1341701161
NM_007217.4(PDCD10):c.159A>G (p.Lys53=) rs1720896761
NM_007217.4(PDCD10):c.268+18del rs1720883807
NM_007217.4(PDCD10):c.269-16G>A
NM_007217.4(PDCD10):c.354A>C (p.Pro118=)
NM_007217.4(PDCD10):c.381T>C (p.Phe127=) rs927454227
NM_007217.4(PDCD10):c.387G>A (p.Gln129=)
NM_007217.4(PDCD10):c.396-19T>C rs2475665662
NM_007217.4(PDCD10):c.475-8G>A rs760515050
NM_007217.4(PDCD10):c.66C>G (p.Leu22=)
NM_007217.4(PDCD10):c.72A>C (p.Ala24=)
NM_031443.4(CCM2):c.1068C>T (p.Phe356=)
NM_031443.4(CCM2):c.1095C>T (p.Phe365=)
NM_031443.4(CCM2):c.1164C>T (p.His388=) rs1019140961
NM_031443.4(CCM2):c.1278G>A (p.Ser426=) rs371498958
NM_031443.4(CCM2):c.1299G>A (p.Glu433=) rs1784232769
NM_031443.4(CCM2):c.1302G>A (p.Ala434=)
NM_031443.4(CCM2):c.156C>T (p.Arg52=) rs748579964
NM_031443.4(CCM2):c.204+11A>G rs922721845
NM_031443.4(CCM2):c.205-18T>G rs2128747278
NM_031443.4(CCM2):c.30+14G>A
NM_031443.4(CCM2):c.438G>A (p.Arg146=) rs1280936139
NM_031443.4(CCM2):c.472+17G>C rs1447843130
NM_031443.4(CCM2):c.472+9G>C
NM_031443.4(CCM2):c.48A>G (p.Pro16=) rs142320735
NM_031443.4(CCM2):c.544C>T (p.Leu182=) rs2486135970
NM_031443.4(CCM2):c.55C>A (p.Arg19=) rs755800734
NM_031443.4(CCM2):c.609+18C>T rs201140198
NM_031443.4(CCM2):c.636G>T (p.Leu212=) rs150076154
NM_031443.4(CCM2):c.732G>A (p.Leu244=) rs1798978241
NM_031443.4(CCM2):c.804-12A>G
NM_031443.4(CCM2):c.804-14A>T rs2486168881
NM_031443.4(CCM2):c.885C>T (p.Ala295=) rs1799191672
NM_031443.4(CCM2):c.915+16A>G rs778728120
NM_031443.4(CCM2):c.916-3C>T rs373072247
NM_031443.4(CCM2):c.916-7C>T rs551511374
NM_194454.3(KRIT1):c.1023A>G (p.Leu341=) rs1472789783
NM_194454.3(KRIT1):c.103-7A>T rs1405862907
NM_194454.3(KRIT1):c.103-8C>T
NM_194454.3(KRIT1):c.1254+16A>G
NM_194454.3(KRIT1):c.1299T>G (p.Ser433=) rs2535832601
NM_194454.3(KRIT1):c.1302T>A (p.Val434=) rs2535832588
NM_194454.3(KRIT1):c.1326C>T (p.Thr442=) rs150912644
NM_194454.3(KRIT1):c.1411+14T>C rs1450901829
NM_194454.3(KRIT1):c.1411+20_1411+24del rs886038758
NM_194454.3(KRIT1):c.1419A>C (p.Gln473His) rs748732288
NM_194454.3(KRIT1):c.1419A>G (p.Gln473=) rs748732288
NM_194454.3(KRIT1):c.1440C>T (p.Pro480=) rs1321821110
NM_194454.3(KRIT1):c.1480T>C (p.Leu494=) rs1795238054
NM_194454.3(KRIT1):c.1680A>G (p.Gln560=) rs867558295
NM_194454.3(KRIT1):c.1707A>G (p.Lys569=)
NM_194454.3(KRIT1):c.1731-14A>C rs748244223
NM_194454.3(KRIT1):c.1860C>T (p.His620=) rs766927131
NM_194454.3(KRIT1):c.2022T>C (p.Thr674=)
NM_194454.3(KRIT1):c.2026-20del rs763882887
NM_194454.3(KRIT1):c.228C>T (p.Thr76=) rs778232555
NM_194454.3(KRIT1):c.387C>T (p.Cys129=) rs2131676285
NM_194454.3(KRIT1):c.462A>G (p.Ala154=)
NM_194454.3(KRIT1):c.485+13G>T rs758014337
NM_194454.3(KRIT1):c.525A>G (p.Pro175=) rs753361614
NM_194454.3(KRIT1):c.567T>C (p.Asn189=) rs2536027445
NM_194454.3(KRIT1):c.573A>T (p.Ile191=)
NM_194454.3(KRIT1):c.615A>G (p.Ser205=) rs2131662377
NM_194454.3(KRIT1):c.636A>G (p.Ala212=) rs2536026234
NM_194454.3(KRIT1):c.730-4del rs765824055
NM_194454.3(KRIT1):c.786A>G (p.Lys262=)
NM_194454.3(KRIT1):c.845+10C>G rs372125478
NM_194454.3(KRIT1):c.918T>C (p.Arg306=) rs2131642409
NM_194454.3(KRIT1):c.951A>G (p.Leu317=)
NM_194454.3(KRIT1):c.975T>C (p.Ile325=)
NM_194454.3(KRIT1):c.989+7G>A rs1326157197
NM_194454.3(KRIT1):c.990-10T>G
NM_194454.3(KRIT1):c.990-22GTTT[4] rs769773658
NM_194454.3(KRIT1):c.990-5T>C rs755015357

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.