ClinVar Miner

List of variants reported as uncertain significance for cerebral cortex disorder

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 253
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HGVS dbSNP gnomAD frequency
NM_000817.2(GAD1):c.-397T>G rs375137598 0.00402
NM_000817.2(GAD1):c.-292C>T rs572158214 0.00374
NM_000817.2(GAD1):c.-255G>A rs545676026 0.00353
NM_032756.4(HPDL):c.134T>A (p.Leu45Gln) rs199632752 0.00152
NM_000817.3(GAD1):c.1173C>T (p.Asn391=) rs34856125 0.00094
NM_000817.3(GAD1):c.1251C>T (p.Leu417=) rs35426017 0.00094
NM_000817.3(GAD1):c.807G>A (p.Pro269=) rs34100397 0.00094
NM_016824.5(ADD3):c.995A>G (p.Asn332Ser) rs41291894 0.00076
NM_015158.5(KANK1):c.3880G>A (p.Gly1294Ser) rs140893133 0.00071
NM_000817.3(GAD1):c.1611+5G>A rs147201199 0.00070
NM_000817.3(GAD1):c.1002+4T>G rs139531653 0.00060
NM_000817.3(GAD1):c.399T>C (p.Asp133=) rs112737041 0.00058
NM_015158.5(KANK1):c.3842A>G (p.Glu1281Gly) rs139624364 0.00056
NM_015158.5(KANK1):c.3130C>T (p.Arg1044Trp) rs150840874 0.00049
NM_000817.3(GAD1):c.484C>G (p.Pro162Ala) rs145603819 0.00045
NM_015158.5(KANK1):c.683C>G (p.Ala228Gly) rs138522309 0.00041
NM_000817.3(GAD1):c.682A>C (p.Ile228Leu) rs45566933 0.00040
NM_001377265.1(MAPT):c.889C>A (p.Arg297Ser) rs150983093 0.00038
NM_000817.3(GAD1):c.*394G>A rs746308188 0.00036
NM_000817.3(GAD1):c.380A>T (p.Tyr127Phe) rs141004978 0.00036
NM_015158.5(KANK1):c.2366G>T (p.Gly789Val) rs146130179 0.00034
NM_000817.3(GAD1):c.1184+17G>A rs180969459 0.00033
NM_015158.5(KANK1):c.1269G>C (p.Lys423Asn) rs137918238 0.00031
NM_015158.5(KANK1):c.2261T>G (p.Val754Gly) rs148027754 0.00031
NM_015158.5(KANK1):c.1216G>A (p.Glu406Lys) rs147714853 0.00028
NM_000817.3(GAD1):c.-176G>C rs886055095 0.00024
NM_015158.5(KANK1):c.2342G>C (p.Cys781Ser) rs143675911 0.00024
NM_000817.2(GAD1):c.-288T>C rs754019434 0.00023
NM_015158.5(KANK1):c.2063C>T (p.Thr688Met) rs146648084 0.00015
NM_000021.4(PSEN1):c.*390T>G rs200372973 0.00014
NM_015158.5(KANK1):c.1652G>A (p.Cys551Tyr) rs370250575 0.00013
NM_015158.5(KANK1):c.3996G>A (p.Pro1332=) rs115382946 0.00013
NM_015158.5(KANK1):c.1260G>C (p.Arg420Ser) rs150303132 0.00012
NM_000817.3(GAD1):c.1120-8C>A rs113638388 0.00011
NM_000817.3(GAD1):c.269G>A (p.Arg90His) rs372095902 0.00011
NM_015158.5(KANK1):c.1818_1820del (p.Glu608del) rs776592186 0.00011
NM_015158.5(KANK1):c.1882A>G (p.Ile628Val) rs114109003 0.00011
NM_000817.3(GAD1):c.249C>A (p.Asp83Glu) rs201750984 0.00010
NM_001377265.1(MAPT):c.1115C>T (p.Ala372Val) rs377402921 0.00010
NM_015158.5(KANK1):c.255A>G (p.Ile85Met) rs143368107 0.00010
NM_000021.4(PSEN1):c.1377A>G (p.Gln459=) rs201496204 0.00009
NM_000817.3(GAD1):c.*431G>A rs780421116 0.00009
NM_015158.5(KANK1):c.2077G>A (p.Glu693Lys) rs370791961 0.00009
NM_000817.3(GAD1):c.203A>G (p.Lys68Arg) rs112605975 0.00008
NM_000817.3(GAD1):c.268C>T (p.Arg90Cys) rs373042715 0.00008
NM_015158.5(KANK1):c.1412G>A (p.Arg471His) rs144629161 0.00007
NM_015158.5(KANK1):c.1909G>A (p.Val637Met) rs147261175 0.00007
NM_000021.4(PSEN1):c.337C>T (p.Leu113=) rs201500006 0.00006
NM_015158.5(KANK1):c.1624G>A (p.Val542Met) rs146416309 0.00006
NM_015158.5(KANK1):c.1943G>A (p.Arg648Gln) rs575779520 0.00006
NM_015158.5(KANK1):c.2968G>A (p.Ala990Thr) rs138899296 0.00006
NM_000817.3(GAD1):c.*1205G>A rs45537831 0.00005
NM_000817.3(GAD1):c.177G>C (p.Glu59Asp) rs138838552 0.00005
NM_000817.3(GAD1):c.385C>A (p.Arg129Ser) rs779472420 0.00005
NM_015158.5(KANK1):c.3733G>A (p.Gly1245Arg) rs776210843 0.00005
NM_000021.4(PSEN1):c.566A>G (p.Tyr189Cys) rs556147068 0.00004
NM_000021.4(PSEN1):c.932A>G (p.Lys311Arg) rs115865530 0.00004
NM_000817.3(GAD1):c.*737G>A rs943528474 0.00004
NM_000817.3(GAD1):c.1184+6G>A rs755825439 0.00004
NM_000817.3(GAD1):c.34T>A (p.Ser12Thr) rs149074954 0.00004
NM_000817.3(GAD1):c.830C>T (p.Ala277Val) rs143319979 0.00004
NM_001377265.1(MAPT):c.10C>A (p.Pro4Thr) rs974837695 0.00004
NM_001377265.1(MAPT):c.1807C>T (p.Arg603Cys) rs770274373 0.00004
NM_015158.5(KANK1):c.226C>T (p.Pro76Ser) rs767269190 0.00004
NM_015158.5(KANK1):c.2389G>A (p.Val797Met) rs540922500 0.00004
NM_015158.5(KANK1):c.3486C>T (p.Gly1162=) rs765330886 0.00004
NM_015158.5(KANK1):c.3552C>T (p.Ala1184=) rs766169056 0.00004
NM_015158.5(KANK1):c.3608C>T (p.Ala1203Val) rs375800988 0.00004
NM_015158.5(KANK1):c.972T>A (p.Tyr324Ter) rs750400215 0.00004
NM_000021.4(PSEN1):c.1078G>A (p.Ala360Thr) rs199715992 0.00003
NM_000817.3(GAD1):c.266G>A (p.Arg89Gln) rs201233553 0.00003
NM_001377265.1(MAPT):c.1042T>C (p.Ser348Pro) rs753640366 0.00003
NM_015158.5(KANK1):c.1811G>A (p.Ser604Asn) rs754470891 0.00003
NM_015158.5(KANK1):c.2933T>C (p.Met978Thr) rs753441206 0.00003
NM_015158.5(KANK1):c.466A>G (p.Lys156Glu) rs762757246 0.00003
NM_000817.3(GAD1):c.1200C>T (p.Thr400=) rs200506981 0.00002
NM_000817.3(GAD1):c.1519G>A (p.Glu507Lys) rs780328766 0.00002
NM_000817.3(GAD1):c.251G>A (p.Arg84Gln) rs200092679 0.00002
NM_000817.3(GAD1):c.896C>T (p.Ala299Val) rs762950875 0.00002
NM_015158.5(KANK1):c.1997C>T (p.Pro666Leu) rs746088661 0.00002
NM_015158.5(KANK1):c.2153C>G (p.Ala718Gly) rs748758469 0.00002
NM_015158.5(KANK1):c.3137T>C (p.Met1046Thr) rs746428922 0.00002
NM_015158.5(KANK1):c.3281A>G (p.Asn1094Ser) rs745697707 0.00002
NM_015158.5(KANK1):c.3869C>A (p.Pro1290His) rs200278059 0.00002
NM_025150.5(TARS2):c.968T>G (p.Phe323Cys) rs760208518 0.00002
NM_000021.4(PSEN1):c.1034A>G (p.Asp345Gly) rs1018763711 0.00001
NM_000021.4(PSEN1):c.1225G>A (p.Ala409Thr) rs63750227 0.00001
NM_000021.4(PSEN1):c.1279A>G (p.Ile427Val) rs1398951357 0.00001
NM_000021.4(PSEN1):c.178C>T (p.Arg60Trp) rs777427451 0.00001
NM_000021.4(PSEN1):c.280G>A (p.Val94Met) rs63750831 0.00001
NM_000021.4(PSEN1):c.370A>G (p.Thr124Ala) rs771002035 0.00001
NM_000021.4(PSEN1):c.442A>G (p.Ile148Val) rs747363386 0.00001
NM_000021.4(PSEN1):c.571G>A (p.Val191Ile) rs750585566 0.00001
NM_000021.4(PSEN1):c.622G>T (p.Val208Leu) rs543391977 0.00001
NM_000021.4(PSEN1):c.659G>A (p.Arg220Gln) rs763831389 0.00001
NM_000021.4(PSEN1):c.79C>T (p.Arg27Cys) rs886050663 0.00001
NM_000817.2(GAD1):c.-226T>C rs1489168699 0.00001
NM_000817.3(GAD1):c.*1129C>T rs973716380 0.00001
NM_000817.3(GAD1):c.*242A>C rs182824071 0.00001
NM_000817.3(GAD1):c.*419T>G rs1319931041 0.00001
NM_000817.3(GAD1):c.*989C>T rs1002008911 0.00001
NM_000817.3(GAD1):c.-53C>A rs886055097 0.00001
NM_000817.3(GAD1):c.1334C>T (p.Ser445Phe) rs1169710215 0.00001
NM_000817.3(GAD1):c.147C>T (p.Gly49=) rs777912966 0.00001
NM_000817.3(GAD1):c.1652C>T (p.Thr551Met) rs762878619 0.00001
NM_000817.3(GAD1):c.1723G>A (p.Ala575Thr) rs527691350 0.00001
NM_000817.3(GAD1):c.35C>G (p.Ser12Cys) rs121918345 0.00001
NM_000817.3(GAD1):c.54C>A (p.Asp18Glu) rs758731063 0.00001
NM_000817.3(GAD1):c.638+10A>G rs769537621 0.00001
NM_000817.3(GAD1):c.867+9G>A rs369785577 0.00001
NM_001377265.1(MAPT):c.89C>T (p.Thr30Ile) rs374996228 0.00001
NM_015158.5(KANK1):c.1086G>C (p.Gln362His) rs747879222 0.00001
NM_015158.5(KANK1):c.148G>T (p.Asp50Tyr) rs745774146 0.00001
NM_015158.5(KANK1):c.1901C>G (p.Ser634Cys) rs1305877076 0.00001
NM_015158.5(KANK1):c.2143C>T (p.Arg715Trp) rs780258278 0.00001
NM_015158.5(KANK1):c.2474A>G (p.His825Arg) rs1324583042 0.00001
NM_015158.5(KANK1):c.2683C>A (p.Leu895Met) rs770304192 0.00001
NM_015158.5(KANK1):c.3764C>A (p.Ala1255Asp) rs187246624 0.00001
NM_015158.5(KANK1):c.433C>T (p.Pro145Ser) rs771646121 0.00001
NM_015158.5(KANK1):c.46G>C (p.Gly16Arg) rs770900793 0.00001
NM_016824.5(ADD3):c.1372G>A (p.Gly458Arg) rs753065727 0.00001
46;XY;t(6;16)(p21.1;q21)dn
NM_000021.4(PSEN1):c.1003G>A (p.Gly335Arg) rs138871096
NM_000021.4(PSEN1):c.1073G>C (p.Arg358Pro) rs63751174
NM_000021.4(PSEN1):c.1081G>C (p.Val361Leu) rs1019919048
NM_000021.4(PSEN1):c.1087G>C (p.Glu363Gln)
NM_000021.4(PSEN1):c.1094C>T (p.Ser365Phe)
NM_000021.4(PSEN1):c.1148T>G (p.Leu383Trp) rs1566656647
NM_000021.4(PSEN1):c.1156T>G (p.Phe386Val)
NM_000021.4(PSEN1):c.1184A>T (p.Lys395Ile)
NM_000021.4(PSEN1):c.118_120del (p.Asp40del) rs759538127
NM_000021.4(PSEN1):c.1223T>C (p.Ile408Thr)
NM_000021.4(PSEN1):c.123A>T (p.Arg41Ser)
NM_000021.4(PSEN1):c.1240A>G (p.Ile414Val) rs777734426
NM_000021.4(PSEN1):c.1249-6C>A
NM_000021.4(PSEN1):c.124C>G (p.Arg42Gly)
NM_000021.4(PSEN1):c.125G>A (p.Arg42Gln) rs367775281
NM_000021.4(PSEN1):c.1306C>G (p.Pro436Ala)
NM_000021.4(PSEN1):c.1319C>A (p.Thr440Asn) rs1900050658
NM_000021.4(PSEN1):c.1369A>G (p.Met457Val) rs1430581353
NM_000021.4(PSEN1):c.256T>C (p.Phe86Leu)
NM_000021.4(PSEN1):c.262C>A (p.Pro88Thr) rs1897874234
NM_000021.4(PSEN1):c.269C>G (p.Thr90Ser) rs1007193620
NM_000021.4(PSEN1):c.308_310del (p.Val103_Ser104delinsGly)
NM_000021.4(PSEN1):c.323G>A (p.Arg108Gln)
NM_000021.4(PSEN1):c.352T>G (p.Phe118Val)
NM_000021.4(PSEN1):c.367G>C (p.Glu123Gln) rs63750378
NM_000021.4(PSEN1):c.392A>G (p.His131Arg)
NM_000021.4(PSEN1):c.401T>G (p.Leu134Arg) rs1595002439
NM_000021.4(PSEN1):c.466T>C (p.Tyr156His)
NM_000021.4(PSEN1):c.475T>C (p.Tyr159His) rs1897961716
NM_000021.4(PSEN1):c.481G>A (p.Val161Ile) rs1898533490
NM_000021.4(PSEN1):c.485T>G (p.Ile162Ser) rs1898533739
NM_000021.4(PSEN1):c.491C>A (p.Ala164Asp)
NM_000021.4(PSEN1):c.504ATC[1] (p.Ser170del)
NM_000021.4(PSEN1):c.509C>A (p.Ser170Tyr) rs63750577
NM_000021.4(PSEN1):c.532T>C (p.Ser178Pro) rs63750155
NM_000021.4(PSEN1):c.550G>A (p.Glu184Lys)
NM_000021.4(PSEN1):c.560A>C (p.Lys187Thr) rs2140093212
NM_000021.4(PSEN1):c.592G>C (p.Val198Leu)
NM_000021.4(PSEN1):c.667C>A (p.Gln223Lys) rs1898776259
NM_000021.4(PSEN1):c.679A>C (p.Ile227Leu)
NM_000021.4(PSEN1):c.679A>G (p.Ile227Val)
NM_000021.4(PSEN1):c.768T>C (p.Tyr256=)
NM_000021.4(PSEN1):c.808A>G (p.Met270Val)
NM_000021.4(PSEN1):c.808_810dup (p.Met270_Leu271insMet)
NM_000021.4(PSEN1):c.809T>C (p.Met270Thr) rs1899028511
NM_000021.4(PSEN1):c.821C>G (p.Thr274Arg) rs63750284
NM_000021.4(PSEN1):c.842C>T (p.Thr281Met)
NM_000021.4(PSEN1):c.869-3C>A rs2140125016
NM_000021.4(PSEN1):c.871A>G (p.Thr291Ala)
NM_000021.4(PSEN1):c.876G>C (p.Met292Ile)
NM_000021.4(PSEN1):c.895G>T (p.Ala299Ser)
NM_000021.4(PSEN1):c.907C>G (p.Pro303Ala) rs1594750510
NM_000021.4(PSEN1):c.908C>T (p.Pro303Leu)
NM_000021.4(PSEN1):c.918A>C (p.Gln306His) rs1256981707
NM_000021.4(PSEN1):c.936T>G (p.Asn312Lys)
NM_000021.4(PSEN1):c.955A>T (p.Ser319Cys) rs2140125296
NM_000153.4:c.[1592G>A];[334A>G]
NM_000817.2(GAD1):c.-276C>T rs931737060
NM_000817.2(GAD1):c.-395G>T rs376690436
NM_000817.3(GAD1):c.*1101G>A rs1702951481
NM_000817.3(GAD1):c.*1153T>C rs1702952602
NM_000817.3(GAD1):c.*561A>C rs1702940888
NM_000817.3(GAD1):c.*764G>T rs886055100
NM_000817.3(GAD1):c.-161G>A rs886055096
NM_000817.3(GAD1):c.-161G>T rs886055096
NM_000817.3(GAD1):c.-29A>G rs551237040
NM_000817.3(GAD1):c.-91G>C rs1701715157
NM_000817.3(GAD1):c.1002+4T>C
NM_000817.3(GAD1):c.103G>A (p.Val35Met)
NM_000817.3(GAD1):c.1159C>T (p.Arg387Cys)
NM_000817.3(GAD1):c.1251_1252delinsTT (p.Val418Phe) rs1575445561
NM_000817.3(GAD1):c.1252G>T (p.Val418Phe) rs143058194
NM_000817.3(GAD1):c.1259A>G (p.Glu420Gly)
NM_000817.3(GAD1):c.1263+6T>A
NM_000817.3(GAD1):c.1265G>A (p.Gly422Asp) rs965039416
NM_000817.3(GAD1):c.1290G>A (p.Met430Ile) rs761887714
NM_000817.3(GAD1):c.1525G>C (p.Glu509Gln) rs1381723796
NM_000817.3(GAD1):c.1594C>T (p.Arg532Trp)
NM_000817.3(GAD1):c.1614G>C (p.Val538=) rs886055099
NM_000817.3(GAD1):c.1638G>C (p.Met546Ile) rs1702920979
NM_000817.3(GAD1):c.1672C>G (p.Pro558Ala)
NM_000817.3(GAD1):c.167G>T (p.Ser56Ile)
NM_000817.3(GAD1):c.1702A>T (p.Met568Leu)
NM_000817.3(GAD1):c.1747C>T (p.Leu583Phe) rs1208499139
NM_000817.3(GAD1):c.17C>T (p.Pro6Leu) rs886055098
NM_000817.3(GAD1):c.236G>A (p.Cys79Tyr) rs2105775770
NM_000817.3(GAD1):c.264C>G (p.Phe88Leu) rs1702169341
NM_000817.3(GAD1):c.265C>T (p.Arg89Trp) rs150841255
NM_000817.3(GAD1):c.326G>C (p.Gly109Ala) rs1228823911
NM_000817.3(GAD1):c.331G>A (p.Glu111Lys) rs2105778312
NM_000817.3(GAD1):c.382G>A (p.Val128Ile) rs1702206902
NM_000817.3(GAD1):c.38C>T (p.Ser13Leu)
NM_000817.3(GAD1):c.449G>T (p.Gly150Val) rs2105778502
NM_000817.3(GAD1):c.61A>G (p.Thr21Ala)
NM_000817.3(GAD1):c.757G>A (p.Ala253Thr) rs2105799342
NM_000817.3(GAD1):c.885G>C (p.Lys295Asn) rs2105799723
NM_000817.3(GAD1):c.92C>T (p.Thr31Ile) rs1413245027
NM_000817.3(GAD1):c.933A>G (p.Ile311Met) rs1702617930
NM_000817.3(GAD1):c.962C>T (p.Pro321Leu)
NM_001042724.2(NECTIN2):c.127C>T (p.Arg43Ter) rs1365743374
NM_001211.6(BUB1B):c.1526C>A (p.Ser509Ter) rs2140900967
NM_001377265.1(MAPT):c.47G>T (p.Gly16Val) rs755131800
NM_001377265.1(MAPT):c.848del (p.Gly283fs) rs773149360
NM_001378183.1(PIEZO2):c.1444del (p.Arg482fs) rs2144239123
NM_001388492.1(HTT):c.7725G>A (p.Gln2575=) rs1720799396
NM_004135.4(IDH3G):c.694T>C (p.Phe232Leu) rs2092091803
NM_005228.5(EGFR):c.925C>T (p.Arg309Ter) rs1444692842
NM_006009.4(TUBA1A):c.367C>T (p.Arg123Cys) rs886039513
NM_013436.5(NCKAP1):c.3348_3351del (p.Ala1115_Tyr1116insTer) rs2105795104
NM_015158.5(KANK1):c.1069G>C (p.Val357Leu) rs756738968
NM_015158.5(KANK1):c.1225A>G (p.Met409Val)
NM_015158.5(KANK1):c.130G>T (p.Asp44Tyr) rs1564032190
NM_015158.5(KANK1):c.1607C>A (p.Thr536Lys) rs149011172
NM_015158.5(KANK1):c.2020A>G (p.Ser674Gly) rs1826539628
NM_015158.5(KANK1):c.2074A>G (p.Ile692Val)
NM_015158.5(KANK1):c.2174A>C (p.Lys725Thr)
NM_015158.5(KANK1):c.271T>A (p.Ser91Thr)
NM_015158.5(KANK1):c.2885C>T (p.Ala962Val) rs1554713996
NM_015158.5(KANK1):c.2896+2T>G rs149121553
NM_015158.5(KANK1):c.2929A>G (p.Ile977Val) rs1564102615
NM_015158.5(KANK1):c.3213dup (p.Cys1072fs) rs1002937620
NM_015158.5(KANK1):c.3333+1G>A
NM_015158.5(KANK1):c.335A>C (p.Gln112Pro) rs751635469
NM_015158.5(KANK1):c.3382C>G (p.Gln1128Glu) rs201456672
NM_015158.5(KANK1):c.3526G>C (p.Glu1176Gln) rs200239036
NM_015158.5(KANK1):c.3634_3636del (p.Lys1212del) rs1481812195
NM_015158.5(KANK1):c.3709del (p.Ala1237fs) rs758879616
NM_015158.5(KANK1):c.3995C>T (p.Pro1332Leu) rs143775530
NM_015158.5(KANK1):c.590CTT[1] (p.Ser198del) rs781727306
NM_032756.4(HPDL):c.119A>C (p.Asp40Ala)
NM_032756.4(HPDL):c.232G>T (p.Ala78Ser)

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