ClinVar Miner

List of variants reported as uncertain significance for cerebral cavernous malformation

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 207
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HGVS dbSNP gnomAD frequency
NM_007217.4(PDCD10):c.-438G>C rs546722173 0.00162
NM_194454.3(KRIT1):c.*132T>G rs572414111 0.00138
NM_194454.3(KRIT1):c.*137del rs543954194 0.00138
NM_194454.3(KRIT1):c.-421+190G>T rs570721041 0.00102
NM_007217.4(PDCD10):c.*199A>C rs183589284 0.00074
NM_007217.4(PDCD10):c.574G>A (p.Val192Ile) rs151267430 0.00061
NM_194454.3(KRIT1):c.*451T>C rs886062486 0.00054
NM_194454.3(KRIT1):c.-538C>T rs886062497 0.00048
NM_007217.4(PDCD10):c.*339G>A rs528574350 0.00040
NM_194456.1(KRIT1):c.-647T>C rs370781912 0.00034
NM_194454.3(KRIT1):c.*46G>A rs369227523 0.00029
NM_194456.1(KRIT1):c.-628T>A rs745344627 0.00025
NM_194454.3(KRIT1):c.*361C>G rs886062489 0.00024
NM_194454.3(KRIT1):c.1326C>G (p.Thr442=) rs150912644 0.00023
NM_194454.3(KRIT1):c.1818+4A>G rs193035191 0.00023
NM_031443.4(CCM2):c.328G>A (p.Asp110Asn) rs41280666 0.00019
NM_194454.3(KRIT1):c.*885A>T rs567470870 0.00014
NM_194454.3(KRIT1):c.2152G>A (p.Val718Met) rs140952803 0.00014
NM_007217.4(PDCD10):c.-393G>A rs779552942 0.00012
NM_194454.3(KRIT1):c.*331G>A rs888560477 0.00012
NM_194454.3(KRIT1):c.1868G>A (p.Arg623His) rs143644029 0.00012
NM_194456.1(KRIT1):c.*1357A>C rs1001963724 0.00012
NM_194454.3(KRIT1):c.*182A>G rs1047129442 0.00010
NM_194454.3(KRIT1):c.*371_*372insG rs886062488 0.00009
NM_194454.3(KRIT1):c.2068T>C (p.Leu690=) rs370766145 0.00009
NM_007217.4(PDCD10):c.268+6G>A rs777634962 0.00008
NM_019004.2(ANKIB1):c.-596C>T rs1437344467 0.00008
NM_007217.4(PDCD10):c.-432C>T rs886058164 0.00007
NM_007217.4(PDCD10):c.*174C>T rs886058159 0.00006
NM_194454.3(KRIT1):c.-529C>T rs886062496 0.00006
NM_194454.3(KRIT1):c.589A>G (p.Thr197Ala) rs140396626 0.00006
NM_007217.4(PDCD10):c.*139A>G rs758404072 0.00005
NM_031443.4(CCM2):c.1091A>G (p.His364Arg) rs201559289 0.00005
NM_031443.4(CCM2):c.665C>T (p.Thr222Met) rs370245890 0.00005
NM_194454.3(KRIT1):c.1012C>T (p.Arg338Cys) rs376805857 0.00005
NM_031443.4(CCM2):c.160G>A (p.Glu54Lys) rs759104121 0.00004
NM_031443.4(CCM2):c.883G>A (p.Ala295Thr) rs762020337 0.00004
NM_194454.3(KRIT1):c.*1205T>C rs183584214 0.00004
NM_194454.3(KRIT1):c.*648A>G rs1016578182 0.00004
NM_194454.3(KRIT1):c.1063C>T (p.Leu355Phe) rs182763805 0.00004
NM_194454.3(KRIT1):c.1553T>C (p.Val518Ala) rs142071709 0.00004
NM_194454.3(KRIT1):c.2102G>A (p.Ser701Asn) rs760437448 0.00004
NM_194454.3(KRIT1):c.*578A>G rs886062485 0.00003
NM_194454.3(KRIT1):c.499C>T (p.Arg167Cys) rs35350895 0.00003
NM_194454.3(KRIT1):c.846-15C>T rs527439925 0.00003
NM_007217.4(PDCD10):c.*141C>T rs886058160 0.00002
NM_031443.4(CCM2):c.556G>A (p.Ala186Thr) rs758091168 0.00002
NM_194454.3(KRIT1):c.-174C>A rs886062491 0.00002
NM_194454.3(KRIT1):c.-291T>C rs983066692 0.00002
NM_194454.3(KRIT1):c.46C>T (p.Arg16Cys) rs370360812 0.00002
NM_031443.4(CCM2):c.221C>T (p.Thr74Met) rs750771937 0.00001
NM_031443.4(CCM2):c.589A>C (p.Ile197Leu) rs1798899357 0.00001
NM_031443.4(CCM2):c.744C>T (p.Ser248=) rs1240228560 0.00001
NM_031443.4(CCM2):c.830G>A (p.Gly277Asp) rs1421166194 0.00001
NM_031443.4(CCM2):c.989C>T (p.Ser330Phe) rs779374000 0.00001
NM_194454.3(KRIT1):c.*77T>C rs1330882008 0.00001
NM_194454.3(KRIT1):c.-421+185C>A rs948520161 0.00001
NM_194454.3(KRIT1):c.1139C>T (p.Thr380Met) rs533696377 0.00001
NM_194454.3(KRIT1):c.1148A>G (p.His383Arg) rs1195083508 0.00001
NM_194454.3(KRIT1):c.1208A>G (p.Asn403Ser) rs760935725 0.00001
NM_194454.3(KRIT1):c.1563+6C>T rs1379958318 0.00001
NM_194454.3(KRIT1):c.1938A>G (p.Thr646=) rs369915828 0.00001
NM_194454.3(KRIT1):c.2155G>T (p.Val719Leu) rs759149249 0.00001
NM_194454.3(KRIT1):c.2189T>C (p.Met730Thr) rs1251580650 0.00001
NM_194454.3(KRIT1):c.296T>A (p.Leu99Gln) rs1445866560 0.00001
NM_194454.3(KRIT1):c.413T>C (p.Ile138Thr) rs1172939308 0.00001
NM_194454.3(KRIT1):c.500G>A (p.Arg167His) rs374246090 0.00001
NC_000007.13:g.(?_91842489)_(91844111_?)dup
NC_000007.13:g.(?_91843186)_(91844111_?)del
NM_006218.4(PIK3CA):c.287A>G (p.Gln96Arg)
NM_007217.4(PDCD10):c.*221T>C rs886058158
NM_007217.4(PDCD10):c.*63T>C rs886058162
NM_007217.4(PDCD10):c.*87A>T rs886058161
NM_007217.4(PDCD10):c.131T>G (p.Leu44Arg)
NM_007217.4(PDCD10):c.143TCA[1] (p.Ile49del)
NM_007217.4(PDCD10):c.151-11C>T rs886058163
NM_007217.4(PDCD10):c.214G>A (p.Val72Met)
NM_007217.4(PDCD10):c.268+5C>G
NM_007217.4(PDCD10):c.271T>C (p.Tyr91His)
NM_007217.4(PDCD10):c.311A>G (p.Asn104Ser)
NM_007217.4(PDCD10):c.377G>T (p.Arg126Met)
NM_007217.4(PDCD10):c.404C>A (p.Ala135Asp)
NM_007217.4(PDCD10):c.474+4C>A rs1390197622
NM_007217.4(PDCD10):c.474+4_474+5insACAA
NM_007217.4(PDCD10):c.542A>G (p.Tyr181Cys)
NM_007217.4(PDCD10):c.557A>G (p.Lys186Arg) rs1719722974
NM_007217.4(PDCD10):c.58A>G (p.Met20Val)
NM_007217.4(PDCD10):c.71C>T (p.Ala24Val)
NM_007217.4(PDCD10):c.71_85del (p.Ala24_Pro28del)
NM_019004.2(ANKIB1):c.-516CCGGAG[4] rs886062498
NM_019004.2(ANKIB1):c.-524C>A rs950572905
NM_019004.2(ANKIB1):c.-603C>G rs932427766
NM_031443.4(CCM2):c.1115T>C (p.Ile372Thr)
NM_031443.4(CCM2):c.1120G>A (p.Val374Met) rs200669376
NM_031443.4(CCM2):c.1180A>G (p.Thr394Ala) rs368380083
NM_031443.4(CCM2):c.1201A>G (p.Asn401Asp)
NM_031443.4(CCM2):c.1252G>A (p.Gly418Arg)
NM_031443.4(CCM2):c.1322A>G (p.Gln441Arg)
NM_031443.4(CCM2):c.193_195del (p.Lys65del) rs1797329314
NM_031443.4(CCM2):c.204+3A>C
NM_031443.4(CCM2):c.288G>T (p.Lys96Asn)
NM_031443.4(CCM2):c.30+5G>T
NM_031443.4(CCM2):c.317C>T (p.Thr106Ile) rs1798672293
NM_031443.4(CCM2):c.344T>G (p.Leu115Arg) rs2128747658
NM_031443.4(CCM2):c.346T>C (p.Ser116Pro) rs1562907616
NM_031443.4(CCM2):c.358_359delinsAA (p.Val120Asn)
NM_031443.4(CCM2):c.419C>A (p.Ala140Asp) rs1208759821
NM_031443.4(CCM2):c.424G>A (p.Val142Ile)
NM_031443.4(CCM2):c.428_430del (p.Ser143del) rs1562907973
NM_031443.4(CCM2):c.434T>G (p.Val145Gly)
NM_031443.4(CCM2):c.436C>T (p.Arg146Trp)
NM_031443.4(CCM2):c.438G>A (p.Arg146=) rs1280936139
NM_031443.4(CCM2):c.487A>G (p.Ile163Val)
NM_031443.4(CCM2):c.526G>A (p.Gly176Ser) rs2128749861
NM_031443.4(CCM2):c.559G>T (p.Val187Phe)
NM_031443.4(CCM2):c.617C>A (p.Ala206Glu) rs777710102
NM_031443.4(CCM2):c.638T>C (p.Leu213Pro) rs1583983649
NM_031443.4(CCM2):c.677T>G (p.Ile226Ser)
NM_031443.4(CCM2):c.679G>A (p.Asp227Asn) rs770430978
NM_031443.4(CCM2):c.698T>C (p.Ile233Thr) rs1798975615
NM_031443.4(CCM2):c.766G>A (p.Asp256Asn)
NM_031443.4(CCM2):c.806G>T (p.Cys269Phe) rs2128752334
NM_031443.4(CCM2):c.93A>C (p.Lys31Asn)
NM_031443.4(CCM2):c.958G>T (p.Ala320Ser)
NM_031443.4(CCM2):c.992T>C (p.Ile331Thr)
NM_194454.3(KRIT1):c.*1029T>G rs972529527
NM_194454.3(KRIT1):c.*102C>T rs1789932075
NM_194454.3(KRIT1):c.*436C>T rs886062487
NM_194454.3(KRIT1):c.*450A>T rs1488573456
NM_194454.3(KRIT1):c.*62A>C rs886062490
NM_194454.3(KRIT1):c.*859C>T rs1789797274
NM_194454.3(KRIT1):c.*8G>A rs1789950973
NM_194454.3(KRIT1):c.*918C>T rs1789789119
NM_194454.3(KRIT1):c.-307A>T rs886062492
NM_194454.3(KRIT1):c.-394C>T rs886062493
NM_194454.3(KRIT1):c.-420-276C>G rs886062494
NM_194454.3(KRIT1):c.-421+240C>G rs886062495
NM_194454.3(KRIT1):c.103-6T>G
NM_194454.3(KRIT1):c.1096G>A (p.Gly366Arg)
NM_194454.3(KRIT1):c.1117A>G (p.Ile373Val)
NM_194454.3(KRIT1):c.1127A>T (p.Asn376Ile)
NM_194454.3(KRIT1):c.1145G>A (p.Arg382Lys)
NM_194454.3(KRIT1):c.1150A>G (p.Ile384Val)
NM_194454.3(KRIT1):c.1201_1204del (p.Gln401fs) rs1057517753
NM_194454.3(KRIT1):c.125T>C (p.Ile42Thr) rs778226731
NM_194454.3(KRIT1):c.1268G>A (p.Arg423Gln) rs778239873
NM_194454.3(KRIT1):c.1302T>A (p.Val434=)
NM_194454.3(KRIT1):c.1342A>G (p.Met448Val)
NM_194454.3(KRIT1):c.1355G>T (p.Arg452Leu) rs201272513
NM_194454.3(KRIT1):c.136A>G (p.Lys46Glu) rs138431665
NM_194454.3(KRIT1):c.1377A>G (p.Gln459=)
NM_194454.3(KRIT1):c.1411+2_1411+5del
NM_194454.3(KRIT1):c.1412-3C>G
NM_194454.3(KRIT1):c.1419A>G (p.Gln473=) rs748732288
NM_194454.3(KRIT1):c.1563G>A (p.Gln521=) rs1563263055
NM_194454.3(KRIT1):c.1600G>A (p.Glu534Lys)
NM_194454.3(KRIT1):c.1631A>G (p.Tyr544Cys)
NM_194454.3(KRIT1):c.1687T>C (p.Tyr563His) rs2131326573
NM_194454.3(KRIT1):c.1688A>G (p.Tyr563Cys)
NM_194454.3(KRIT1):c.1717C>G (p.Gln573Glu)
NM_194454.3(KRIT1):c.1730+6T>G rs1554504391
NM_194454.3(KRIT1):c.1731-3C>G
NM_194454.3(KRIT1):c.1753G>A (p.Val585Ile)
NM_194454.3(KRIT1):c.1771A>G (p.Lys591Glu) rs2131316490
NM_194454.3(KRIT1):c.1775G>C (p.Ser592Thr)
NM_194454.3(KRIT1):c.1783C>T (p.Pro595Ser)
NM_194454.3(KRIT1):c.1796A>G (p.Asn599Ser) rs954641073
NM_194454.3(KRIT1):c.1813T>C (p.Tyr605His)
NM_194454.3(KRIT1):c.1818+3A>C
NM_194454.3(KRIT1):c.1942G>A (p.Ala648Thr)
NM_194454.3(KRIT1):c.1943C>T (p.Ala648Val) rs2131308052
NM_194454.3(KRIT1):c.1974G>A (p.Val658=) rs780889522
NM_194454.3(KRIT1):c.1976A>G (p.Tyr659Cys)
NM_194454.3(KRIT1):c.2025+3A>G
NM_194454.3(KRIT1):c.2025G>C (p.Lys675Asn)
NM_194454.3(KRIT1):c.2061G>A (p.Met687Ile)
NM_194454.3(KRIT1):c.2074GATACT[1] (p.692DT[1]) rs764839013
NM_194454.3(KRIT1):c.2165T>A (p.Leu722Ter) rs2131078017
NM_194454.3(KRIT1):c.230A>G (p.Lys77Arg) rs1799505965
NM_194454.3(KRIT1):c.280A>G (p.Met94Val)
NM_194454.3(KRIT1):c.301G>A (p.Gly101Arg) rs1057521140
NM_194454.3(KRIT1):c.386G>A (p.Cys129Tyr) rs764760437
NM_194454.3(KRIT1):c.405A>C (p.Leu135Phe)
NM_194454.3(KRIT1):c.421G>A (p.Val141Ile) rs2131675934
NM_194454.3(KRIT1):c.443A>G (p.His148Arg) rs2131675658
NM_194454.3(KRIT1):c.451A>G (p.Thr151Ala) rs774330517
NM_194454.3(KRIT1):c.47G>C (p.Arg16Pro) rs1313893193
NM_194454.3(KRIT1):c.482A>G (p.Asp161Gly) rs1563309238
NM_194454.3(KRIT1):c.491T>C (p.Leu164Ser) rs1739707829
NM_194454.3(KRIT1):c.492A>T (p.Leu164Phe) rs2131664007
NM_194454.3(KRIT1):c.506C>G (p.Ala169Gly)
NM_194454.3(KRIT1):c.536G>A (p.Arg179Gln)
NM_194454.3(KRIT1):c.542CTC[1] (p.Pro182del)
NM_194454.3(KRIT1):c.646A>G (p.Lys216Glu) rs1563305909
NM_194454.3(KRIT1):c.673G>A (p.Ala225Thr)
NM_194454.3(KRIT1):c.68T>G (p.Leu23Arg) rs1799792039
NM_194454.3(KRIT1):c.728G>A (p.Arg243Gln)
NM_194454.3(KRIT1):c.729G>C (p.Arg243=) rs749407592
NM_194454.3(KRIT1):c.730-12_730-11insGAACCTGGGAGGCGGAGGTTGCAGTGTGCTGAGATCGCACACTGCGA
NM_194454.3(KRIT1):c.755A>G (p.Tyr252Cys) rs1798075445
NM_194454.3(KRIT1):c.845+10C>G rs372125478
NM_194454.3(KRIT1):c.938C>T (p.Ser313Leu)
NM_194454.3(KRIT1):c.989+7G>A rs1326157197
NM_194456.1(KRIT1):c.*1457T>C rs1789727080
NM_194456.1(KRIT1):c.*1555A>G rs1789715493
NM_194456.1(KRIT1):c.*1655T>G rs886062484
NM_194456.1(KRIT1):c.-632A>C rs1800915586

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