ClinVar Miner

List of variants in gene SCARB2 reported as uncertain significance for adolescent-onset epilepsy syndrome

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 183
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HGVS dbSNP gnomAD frequency
NM_005506.4(SCARB2):c.445G>A (p.Val149Met) rs147159813 0.00217
NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala) rs143558324 0.00114
NM_005506.4(SCARB2):c.851A>C (p.Tyr284Ser) rs149997095 0.00041
NM_005506.4(SCARB2):c.379G>T (p.Asp127Tyr) rs148022786 0.00019
NM_005506.4(SCARB2):c.919G>A (p.Asp307Asn) rs142392473 0.00019
NM_005506.4(SCARB2):c.1328T>C (p.Met443Thr) rs141250135 0.00016
NM_005506.4(SCARB2):c.244C>T (p.Arg82Trp) rs142690468 0.00016
NM_005506.4(SCARB2):c.277G>A (p.Glu93Lys) rs145870223 0.00016
NM_005506.4(SCARB2):c.1262C>T (p.Thr421Met) rs149474488 0.00012
NM_005506.4(SCARB2):c.38C>T (p.Ser13Phe) rs144791636 0.00012
NM_005506.4(SCARB2):c.430A>T (p.Ile144Leu) rs117600063 0.00012
NM_005506.4(SCARB2):c.1210A>G (p.Met404Val) rs147142116 0.00011
NM_005506.4(SCARB2):c.194A>G (p.Tyr65Cys) rs138955932 0.00011
NM_005506.4(SCARB2):c.1136C>T (p.Ala379Val) rs144147706 0.00010
NM_005506.4(SCARB2):c.1265C>T (p.Ala422Val) rs756606813 0.00010
NM_005506.4(SCARB2):c.826T>G (p.Ser276Ala) rs188036542 0.00010
NM_005506.4(SCARB2):c.24G>A (p.Thr8=) rs772501510 0.00009
NM_005506.4(SCARB2):c.580G>A (p.Asp194Asn) rs773017713 0.00009
NM_005506.4(SCARB2):c.80G>A (p.Arg27Gln) rs368906199 0.00009
NM_005506.4(SCARB2):c.1010T>C (p.Met337Thr) rs147324129 0.00008
NM_005506.4(SCARB2):c.1271G>A (p.Arg424Gln) rs751827409 0.00006
NM_005506.4(SCARB2):c.1325T>C (p.Ile442Thr) rs1064794450 0.00005
NM_005506.4(SCARB2):c.911A>G (p.Asn304Ser) rs150870503 0.00004
NM_005506.4(SCARB2):c.914C>T (p.Thr305Met) rs148588727 0.00004
NM_005506.4(SCARB2):c.1057A>G (p.Ile353Val) rs542349309 0.00003
NM_005506.4(SCARB2):c.117G>A (p.Lys39=) rs1006710581 0.00003
NM_005506.4(SCARB2):c.1249A>G (p.Ile417Val) rs778593496 0.00003
NM_005506.4(SCARB2):c.280C>T (p.Leu94Phe) rs752416481 0.00003
NM_005506.4(SCARB2):c.523G>A (p.Glu175Lys) rs751711805 0.00003
NM_005506.4(SCARB2):c.863A>G (p.Gln288Arg) rs963202088 0.00003
NM_005506.4(SCARB2):c.1105A>G (p.Ile369Val) rs1311037416 0.00002
NM_005506.4(SCARB2):c.1235A>G (p.Asn412Ser) rs771661901 0.00002
NM_005506.4(SCARB2):c.238A>C (p.Thr80Pro) rs767397350 0.00002
NM_005506.4(SCARB2):c.515C>T (p.Thr172Ile) rs557392749 0.00002
NM_005506.4(SCARB2):c.746A>G (p.Asn249Ser) rs199837910 0.00002
NM_005506.4(SCARB2):c.816C>G (p.Asp272Glu) rs370666555 0.00002
NM_005506.4(SCARB2):c.825-3C>T rs772593602 0.00002
NM_005506.4(SCARB2):c.1015T>C (p.Phe339Leu) rs780194648 0.00001
NM_005506.4(SCARB2):c.1039G>A (p.Glu347Lys) rs559054010 0.00001
NM_005506.4(SCARB2):c.1067T>C (p.Met356Thr) rs1010410881 0.00001
NM_005506.4(SCARB2):c.117+15G>T rs762251387 0.00001
NM_005506.4(SCARB2):c.118-3T>G rs755638994 0.00001
NM_005506.4(SCARB2):c.1187+2dup rs727502783 0.00001
NM_005506.4(SCARB2):c.1194G>A (p.Thr398=) rs574498998 0.00001
NM_005506.4(SCARB2):c.1208C>T (p.Thr403Ile) rs770343701 0.00001
NM_005506.4(SCARB2):c.1239+8C>G rs369265725 0.00001
NM_005506.4(SCARB2):c.1282A>G (p.Met428Val) rs746370059 0.00001
NM_005506.4(SCARB2):c.1302C>G (p.Ile434Met) rs1035540343 0.00001
NM_005506.4(SCARB2):c.1327A>G (p.Met443Val) rs376806999 0.00001
NM_005506.4(SCARB2):c.1329G>A (p.Met443Ile) rs1232863838 0.00001
NM_005506.4(SCARB2):c.1331C>T (p.Ala444Val) rs773957659 0.00001
NM_005506.4(SCARB2):c.1339G>C (p.Val447Leu) rs1350213956 0.00001
NM_005506.4(SCARB2):c.1369G>C (p.Ala457Pro) rs757381866 0.00001
NM_005506.4(SCARB2):c.1382_1383del (p.Gln461fs) rs1233094134 0.00001
NM_005506.4(SCARB2):c.1403C>T (p.Thr468Ile) rs796052948 0.00001
NM_005506.4(SCARB2):c.1416A>C (p.Arg472Ser) rs1191433680 0.00001
NM_005506.4(SCARB2):c.170C>T (p.Pro57Leu) rs1560716152 0.00001
NM_005506.4(SCARB2):c.203A>G (p.Asn68Ser) rs1394046858 0.00001
NM_005506.4(SCARB2):c.241C>T (p.Pro81Ser) rs878853018 0.00001
NM_005506.4(SCARB2):c.245G>A (p.Arg82Gln) rs1422181706 0.00001
NM_005506.4(SCARB2):c.263C>T (p.Pro88Leu) rs1732696835 0.00001
NM_005506.4(SCARB2):c.350A>G (p.Tyr117Cys) rs754341111 0.00001
NM_005506.4(SCARB2):c.377G>C (p.Gly126Ala) rs776680365 0.00001
NM_005506.4(SCARB2):c.463A>G (p.Ile155Val) rs772434203 0.00001
NM_005506.4(SCARB2):c.469G>A (p.Glu157Lys) rs760128942 0.00001
NM_005506.4(SCARB2):c.593A>G (p.Tyr198Cys) rs1018285383 0.00001
NM_005506.4(SCARB2):c.612+5G>A rs1019363350 0.00001
NM_005506.4(SCARB2):c.638A>T (p.Tyr213Phe) rs751953388 0.00001
NM_005506.4(SCARB2):c.664T>C (p.Tyr222His) rs1732253776 0.00001
NM_005506.4(SCARB2):c.704+5G>A rs774271963 0.00001
NM_005506.4(SCARB2):c.705-7A>G rs1217073681 0.00001
NM_005506.4(SCARB2):c.709C>G (p.Leu237Val) rs200332825 0.00001
NM_005506.4(SCARB2):c.716G>T (p.Trp239Leu) rs755176349 0.00001
NM_005506.4(SCARB2):c.766T>C (p.Phe256Leu) rs1241257632 0.00001
NM_005506.4(SCARB2):c.787G>C (p.Asp263His) rs759410840 0.00001
NM_005506.4(SCARB2):c.79C>T (p.Arg27Trp) rs1466314804 0.00001
NM_005506.4(SCARB2):c.866G>A (p.Gly289Glu) rs777478545 0.00001
NM_005506.4(SCARB2):c.953G>T (p.Cys318Phe) rs148780369 0.00001
NC_000004.11:g.(?_77082846)_(77102274_?)dup
NC_000004.11:g.(?_77082866)_(77102264_?)del
NC_000004.11:g.(?_77082866)_(77102274_?)dup
NC_000004.11:g.(?_77116840)_(77134696_?)dup
NC_000004.11:g.(?_77116850)_(77134696_?)dup
NM_005506.4(SCARB2):c.1034C>A (p.Ala345Glu)
NM_005506.4(SCARB2):c.1043G>A (p.Arg348Lys) rs1435706864
NM_005506.4(SCARB2):c.105G>T (p.Gln35His)
NM_005506.4(SCARB2):c.1066A>C (p.Met356Leu)
NM_005506.4(SCARB2):c.1097T>C (p.Phe366Ser) rs1374602411
NM_005506.4(SCARB2):c.1114-3C>T rs1560705500
NM_005506.4(SCARB2):c.1118C>T (p.Thr373Ile) rs1732061373
NM_005506.4(SCARB2):c.1142A>G (p.Lys381Arg)
NM_005506.4(SCARB2):c.117+3G>A rs1733107604
NM_005506.4(SCARB2):c.117+6G>C rs2109974158
NM_005506.4(SCARB2):c.1172A>C (p.Lys391Thr) rs1732060256
NM_005506.4(SCARB2):c.1188-3T>C rs1251392642
NM_005506.4(SCARB2):c.11G>A (p.Cys4Tyr) rs1196467385
NM_005506.4(SCARB2):c.1201A>G (p.Ile401Val) rs1405139421
NM_005506.4(SCARB2):c.1229A>T (p.Tyr410Phe) rs777270813
NM_005506.4(SCARB2):c.1249A>T (p.Ile417Phe)
NM_005506.4(SCARB2):c.1283T>C (p.Met428Thr) rs2109931937
NM_005506.4(SCARB2):c.1307C>T (p.Thr436Ile) rs1731937544
NM_005506.4(SCARB2):c.1312A>G (p.Ile438Val)
NM_005506.4(SCARB2):c.1313T>C (p.Ile438Thr)
NM_005506.4(SCARB2):c.1319A>G (p.Tyr440Cys)
NM_005506.4(SCARB2):c.1365G>C (p.Trp455Cys) rs995674389
NM_005506.4(SCARB2):c.1369G>A (p.Ala457Thr)
NM_005506.4(SCARB2):c.1373G>T (p.Cys458Phe) rs1578712032
NM_005506.4(SCARB2):c.1378G>A (p.Gly460Arg)
NM_005506.4(SCARB2):c.1393G>A (p.Asp465Asn) rs1238888097
NM_005506.4(SCARB2):c.1399-11C>G rs1392686046
NM_005506.4(SCARB2):c.140C>T (p.Thr47Ile) rs1732700794
NM_005506.4(SCARB2):c.1412A>T (p.Glu471Val) rs755903502
NM_005506.4(SCARB2):c.1430G>A (p.Arg477Gln) rs1480481844
NM_005506.4(SCARB2):c.1432del (p.Thr478fs) rs756112626
NM_005506.4(SCARB2):c.1433C>A (p.Thr478Asn) rs2109930564
NM_005506.4(SCARB2):c.160G>A (p.Glu54Lys)
NM_005506.4(SCARB2):c.166C>T (p.Pro56Ser) rs2109960897
NM_005506.4(SCARB2):c.172C>G (p.Leu58Val)
NM_005506.4(SCARB2):c.178G>T (p.Val60Leu) rs1287892295
NM_005506.4(SCARB2):c.212A>G (p.Asn71Ser)
NM_005506.4(SCARB2):c.223A>T (p.Ile75Phe) rs1560716099
NM_005506.4(SCARB2):c.231A>T (p.Arg77Ser)
NM_005506.4(SCARB2):c.232G>A (p.Gly78Arg)
NM_005506.4(SCARB2):c.237G>C (p.Glu79Asp) rs1348033527
NM_005506.4(SCARB2):c.245G>T (p.Arg82Leu) rs1422181706
NM_005506.4(SCARB2):c.251A>G (p.Glu84Gly)
NM_005506.4(SCARB2):c.256G>A (p.Val86Met) rs1732697033
NM_005506.4(SCARB2):c.268A>C (p.Thr90Pro) rs1732696609
NM_005506.4(SCARB2):c.276-7_276-5del
NM_005506.4(SCARB2):c.299T>C (p.Ile100Thr) rs2109948743
NM_005506.4(SCARB2):c.314A>T (p.Asn105Ile) rs1732373905
NM_005506.4(SCARB2):c.328T>C (p.Ser110Pro)
NM_005506.4(SCARB2):c.343A>C (p.Lys115Gln) rs1732373432
NM_005506.4(SCARB2):c.346G>A (p.Ala116Thr)
NM_005506.4(SCARB2):c.346G>T (p.Ala116Ser) rs1732373270
NM_005506.4(SCARB2):c.353T>G (p.Val118Gly)
NM_005506.4(SCARB2):c.365A>T (p.Asp122Val)
NM_005506.4(SCARB2):c.366C>G (p.Asp122Glu) rs2109948680
NM_005506.4(SCARB2):c.381C>G (p.Asp127Glu) rs1553948511
NM_005506.4(SCARB2):c.382C>T (p.Pro128Ser) rs143558324
NM_005506.4(SCARB2):c.424-19A>G
NM_005506.4(SCARB2):c.440C>T (p.Ser147Phe)
NM_005506.4(SCARB2):c.443A>G (p.Gln148Arg) rs1560710284
NM_005506.4(SCARB2):c.451T>A (p.Phe151Ile) rs1732338247
NM_005506.4(SCARB2):c.451T>C (p.Phe151Leu) rs1732338247
NM_005506.4(SCARB2):c.465C>G (p.Ile155Met)
NM_005506.4(SCARB2):c.488A>G (p.Tyr163Cys) rs1326652823
NM_005506.4(SCARB2):c.508A>T (p.Thr170Ser) rs2109947296
NM_005506.4(SCARB2):c.511C>T (p.His171Tyr) rs756489019
NM_005506.4(SCARB2):c.523G>C (p.Glu175Gln) rs751711805
NM_005506.4(SCARB2):c.527T>C (p.Leu176Ser)
NM_005506.4(SCARB2):c.541A>C (p.Lys181Gln)
NM_005506.4(SCARB2):c.55_75del (p.Thr19_Val25del) rs1401788267
NM_005506.4(SCARB2):c.584T>G (p.Ile195Ser) rs2109947161
NM_005506.4(SCARB2):c.605T>C (p.Phe202Ser) rs768181886
NM_005506.4(SCARB2):c.638A>C (p.Tyr213Ser) rs751953388
NM_005506.4(SCARB2):c.65C>T (p.Thr22Met) rs1733110733
NM_005506.4(SCARB2):c.705-3T>C
NM_005506.4(SCARB2):c.705G>A (p.Thr235=) rs2109943699
NM_005506.4(SCARB2):c.713A>G (p.Asp238Gly) rs1732242578
NM_005506.4(SCARB2):c.727G>A (p.Asp243Asn) rs751498101
NM_005506.4(SCARB2):c.72G>A (p.Leu24=) rs2109974267
NM_005506.4(SCARB2):c.741_743del (p.Met247del) rs1732241629
NM_005506.4(SCARB2):c.752C>T (p.Thr251Ile) rs1553948166
NM_005506.4(SCARB2):c.764C>T (p.Ser255Phe) rs1211983888
NM_005506.4(SCARB2):c.781A>G (p.Thr261Ala) rs1732241039
NM_005506.4(SCARB2):c.802G>A (p.Val268Ile)
NM_005506.4(SCARB2):c.833A>G (p.Tyr278Cys) rs774730087
NM_005506.4(SCARB2):c.839C>G (p.Thr280Ser) rs768765087
NM_005506.4(SCARB2):c.854A>G (p.Glu285Gly)
NM_005506.4(SCARB2):c.869T>A (p.Leu290Gln) rs1553948019
NM_005506.4(SCARB2):c.881G>A (p.Arg294Gln) rs752667549
NM_005506.4(SCARB2):c.889G>C (p.Val297Leu)
NM_005506.4(SCARB2):c.8G>A (p.Arg3Gln) rs937537878
NM_005506.4(SCARB2):c.901A>G (p.Ile301Val) rs2109941946
NM_005506.4(SCARB2):c.903A>G (p.Ile301Met) rs1485497925
NM_005506.4(SCARB2):c.910A>G (p.Asn304Asp) rs1732197179
NM_005506.4(SCARB2):c.951C>G (p.Asn317Lys) rs1732195814
NM_005506.4(SCARB2):c.962C>T (p.Ser321Leu) rs1553947990
NM_005506.4(SCARB2):c.967G>A (p.Val323Ile) rs2109941801
NM_005506.4(SCARB2):c.970C>G (p.Leu324Val) rs1732195035
NM_005506.4(SCARB2):c.986G>A (p.Cys329Tyr)
NM_005506.4(SCARB2):c.998C>T (p.Ala333Val) rs2109937871

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