ClinVar Miner

List of variants in gene SCARB2 reported as likely benign for childhood-onset epilepsy syndrome

Included ClinVar conditions (90):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 165
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HGVS dbSNP gnomAD frequency
NM_005506.4(SCARB2):c.171T>C (p.Pro57=) rs199895330 0.00232
NM_005506.4(SCARB2):c.445G>A (p.Val149Met) rs147159813 0.00217
NM_005506.4(SCARB2):c.704+16T>C rs199686576 0.00148
NM_005506.4(SCARB2):c.246G>C (p.Arg82=) rs35035064 0.00116
NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala) rs143558324 0.00114
NM_005506.4(SCARB2):c.424-4G>A rs368869126 0.00060
NM_005506.4(SCARB2):c.486C>T (p.Ala162=) rs143518519 0.00054
NM_005506.4(SCARB2):c.276-7C>G rs200507087 0.00042
NM_005506.4(SCARB2):c.567T>C (p.His189=) rs141208366 0.00037
NM_005506.4(SCARB2):c.228C>T (p.Leu76=) rs35069772 0.00016
NM_005506.4(SCARB2):c.424-5C>T rs192876326 0.00014
NM_005506.4(SCARB2):c.430A>T (p.Ile144Leu) rs117600063 0.00012
NM_005506.4(SCARB2):c.1407G>A (p.Ala469=) rs144878666 0.00010
NM_005506.4(SCARB2):c.1187+18C>T rs202159028 0.00009
NM_005506.4(SCARB2):c.1385G>A (p.Gly462Glu) rs117157204 0.00009
NM_005506.4(SCARB2):c.24G>A (p.Thr8=) rs772501510 0.00009
NM_005506.4(SCARB2):c.275+20T>C rs377180838 0.00009
NM_005506.4(SCARB2):c.402A>G (p.Arg134=) rs778684185 0.00009
NM_005506.4(SCARB2):c.580G>A (p.Asp194Asn) rs773017713 0.00009
NM_005506.4(SCARB2):c.117+19T>C rs774812479 0.00007
NM_005506.4(SCARB2):c.504T>A (p.Phe168Leu) rs780352333 0.00007
NM_005506.4(SCARB2):c.1187+12T>C rs532651260 0.00006
NM_005506.4(SCARB2):c.118-12G>T rs753744775 0.00005
NM_005506.4(SCARB2):c.588T>C (p.Ser196=) rs761204416 0.00005
NM_005506.4(SCARB2):c.1089T>C (p.His363=) rs753197792 0.00004
NM_005506.4(SCARB2):c.1240-18A>G rs371940249 0.00004
NM_005506.4(SCARB2):c.1266G>A (p.Ala422=) rs150330299 0.00004
NM_005506.4(SCARB2):c.1273C>T (p.Leu425=) rs764452245 0.00004
NM_005506.4(SCARB2):c.1398+14dup rs745656715 0.00004
NM_005506.4(SCARB2):c.522C>T (p.Asp174=) rs375051752 0.00004
NM_005506.4(SCARB2):c.915G>A (p.Thr305=) rs762138695 0.00004
NM_005506.4(SCARB2):c.93G>A (p.Lys31=) rs558215488 0.00004
NM_005506.4(SCARB2):c.9A>G (p.Arg3=) rs148558907 0.00004
NM_005506.4(SCARB2):c.1116G>A (p.Leu372=) rs564647544 0.00003
NM_005506.4(SCARB2):c.1263G>A (p.Thr421=) rs137992547 0.00003
NM_005506.4(SCARB2):c.1332G>A (p.Ala444=) rs768343387 0.00003
NM_005506.4(SCARB2):c.468C>T (p.Ile156=) rs771468161 0.00003
NM_005506.4(SCARB2):c.582T>C (p.Asp194=) rs772085575 0.00003
NM_005506.4(SCARB2):c.824+18A>G rs755013803 0.00003
NM_005506.4(SCARB2):c.275+14A>G rs759250571 0.00002
NM_005506.4(SCARB2):c.291A>G (p.Lys97=) rs377635556 0.00002
NM_005506.4(SCARB2):c.824+20G>A rs1257697437 0.00002
NM_005506.4(SCARB2):c.825-8C>T rs201397845 0.00002
NM_005506.4(SCARB2):c.904T>C (p.Leu302=) rs377511764 0.00002
NM_005506.4(SCARB2):c.96T>C (p.Ala32=) rs752537434 0.00002
NM_005506.4(SCARB2):c.1113+19C>G rs1362440207 0.00001
NM_005506.4(SCARB2):c.114G>A (p.Glu38=) rs534686738 0.00001
NM_005506.4(SCARB2):c.117+10G>A rs760111311 0.00001
NM_005506.4(SCARB2):c.117+13G>A rs1391392584 0.00001
NM_005506.4(SCARB2):c.117+14G>A rs772998739 0.00001
NM_005506.4(SCARB2):c.1188-5T>C rs775387526 0.00001
NM_005506.4(SCARB2):c.1193C>T (p.Thr398Met) rs759493134 0.00001
NM_005506.4(SCARB2):c.1240-9C>T rs369557905 0.00001
NM_005506.4(SCARB2):c.1399-8T>C rs1731903272 0.00001
NM_005506.4(SCARB2):c.1425C>T (p.Leu475=) rs780985651 0.00001
NM_005506.4(SCARB2):c.147A>C (p.Ala49=) rs764449103 0.00001
NM_005506.4(SCARB2):c.172C>T (p.Leu58=) rs1051789209 0.00001
NM_005506.4(SCARB2):c.18C>T (p.Phe6=) rs1733112720 0.00001
NM_005506.4(SCARB2):c.264A>G (p.Pro88=) rs765664728 0.00001
NM_005506.4(SCARB2):c.276-17C>T rs1732375088 0.00001
NM_005506.4(SCARB2):c.33G>T (p.Thr11=) rs774721226 0.00001
NM_005506.4(SCARB2):c.400A>C (p.Arg134=) rs747696444 0.00001
NM_005506.4(SCARB2):c.423+7A>C rs1380805649 0.00001
NM_005506.4(SCARB2):c.579C>T (p.Pro193=) rs148029250 0.00001
NM_005506.4(SCARB2):c.613-14T>G rs1484418425 0.00001
NM_005506.4(SCARB2):c.690A>G (p.Glu230=) rs957776724 0.00001
NM_005506.4(SCARB2):c.704+17A>G rs762520392 0.00001
NM_005506.4(SCARB2):c.705-20C>G rs747460425 0.00001
NM_005506.4(SCARB2):c.921C>T (p.Asp307=) rs1732196836 0.00001
NM_005506.4(SCARB2):c.1005C>T (p.Ile335=)
NM_005506.4(SCARB2):c.1014T>G (p.Ser338=) rs1732095676
NM_005506.4(SCARB2):c.1026T>C (p.Phe342=)
NM_005506.4(SCARB2):c.1056C>A (p.Ala352=)
NM_005506.4(SCARB2):c.1086C>T (p.Asp362=) rs1238674003
NM_005506.4(SCARB2):c.1107T>A (p.Ile369=) rs2109937710
NM_005506.4(SCARB2):c.1113+16C>T
NM_005506.4(SCARB2):c.1114-15T>C
NM_005506.4(SCARB2):c.1114-18C>T
NM_005506.4(SCARB2):c.1114-19T>G
NM_005506.4(SCARB2):c.1119T>G (p.Thr373=)
NM_005506.4(SCARB2):c.1161T>C (p.Ile387=)
NM_005506.4(SCARB2):c.1164T>C (p.Tyr388=) rs777550966
NM_005506.4(SCARB2):c.1179T>C (p.Asp393=) rs2109936359
NM_005506.4(SCARB2):c.118-10T>G rs1188258340
NM_005506.4(SCARB2):c.118-7T>C rs190362739
NM_005506.4(SCARB2):c.1182C>T (p.Asp394=)
NM_005506.4(SCARB2):c.1187+10G>C
NM_005506.4(SCARB2):c.1187+13T>C
NM_005506.4(SCARB2):c.1187+20A>G
NM_005506.4(SCARB2):c.1188-11del rs796052945
NM_005506.4(SCARB2):c.1188-15C>T rs1480025542
NM_005506.4(SCARB2):c.1188-19T>G
NM_005506.4(SCARB2):c.1224G>A (p.Val408=) rs1803391
NM_005506.4(SCARB2):c.1233C>G (p.Leu411=)
NM_005506.4(SCARB2):c.1239+12G>A
NM_005506.4(SCARB2):c.1239+14_1239+17dup
NM_005506.4(SCARB2):c.1239+15G>A
NM_005506.4(SCARB2):c.1240-15T>G rs2109931990
NM_005506.4(SCARB2):c.1240-4C>T
NM_005506.4(SCARB2):c.1240-6C>G
NM_005506.4(SCARB2):c.1242T>C (p.Ser414=)
NM_005506.4(SCARB2):c.1245T>G (p.Val415=) rs1262722686
NM_005506.4(SCARB2):c.1275G>A (p.Leu425=)
NM_005506.4(SCARB2):c.127T>C (p.Leu43=)
NM_005506.4(SCARB2):c.12C>T (p.Cys4=)
NM_005506.4(SCARB2):c.1305C>T (p.Ile435=)
NM_005506.4(SCARB2):c.1317C>G (p.Pro439=) rs1731937017
NM_005506.4(SCARB2):c.1371A>C (p.Ala457=)
NM_005506.4(SCARB2):c.1386A>T (p.Gly462=) rs1315496558
NM_005506.4(SCARB2):c.1398+10_1398+22del rs778683141
NM_005506.4(SCARB2):c.1398+8C>A rs755919906
NM_005506.4(SCARB2):c.1398+8C>T rs755919906
NM_005506.4(SCARB2):c.1399-13T>C
NM_005506.4(SCARB2):c.1399-15T>A
NM_005506.4(SCARB2):c.1399-16C>G
NM_005506.4(SCARB2):c.141T>C (p.Thr47=) rs2109960926
NM_005506.4(SCARB2):c.147A>G (p.Ala49=) rs764449103
NM_005506.4(SCARB2):c.201C>T (p.Phe67=) rs749098073
NM_005506.4(SCARB2):c.204T>C (p.Asn68=)
NM_005506.4(SCARB2):c.21C>T (p.Tyr7=) rs1259404552
NM_005506.4(SCARB2):c.228C>G (p.Leu76=) rs35069772
NM_005506.4(SCARB2):c.234G>C (p.Gly78=)
NM_005506.4(SCARB2):c.249G>A (p.Val83=)
NM_005506.4(SCARB2):c.275+12C>A
NM_005506.4(SCARB2):c.276-10T>G
NM_005506.4(SCARB2):c.276-7_276-5del
NM_005506.4(SCARB2):c.303A>G (p.Gln101=) rs1242165140
NM_005506.4(SCARB2):c.315T>C (p.Asn105=) rs2109948728
NM_005506.4(SCARB2):c.345G>A (p.Lys115=)
NM_005506.4(SCARB2):c.372T>G (p.Ser124=) rs2109948665
NM_005506.4(SCARB2):c.390T>C (p.Ile130=)
NM_005506.4(SCARB2):c.39C>A (p.Ser13=) rs2109974322
NM_005506.4(SCARB2):c.405A>G (p.Thr135=)
NM_005506.4(SCARB2):c.424-18T>G
NM_005506.4(SCARB2):c.444G>A (p.Gln148=)
NM_005506.4(SCARB2):c.459G>A (p.Arg153=) rs2109947357
NM_005506.4(SCARB2):c.495G>A (p.Gln165=) rs748957598
NM_005506.4(SCARB2):c.526T>C (p.Leu176=) rs2109947255
NM_005506.4(SCARB2):c.549A>G (p.Glu183=) rs2109947229
NM_005506.4(SCARB2):c.57C>T (p.Thr19=)
NM_005506.4(SCARB2):c.585C>A (p.Ile195=)
NM_005506.4(SCARB2):c.594T>C (p.Tyr198=)
NM_005506.4(SCARB2):c.606C>T (p.Phe202=) rs963757755
NM_005506.4(SCARB2):c.612+15C>G rs2109947094
NM_005506.4(SCARB2):c.612+8G>A
NM_005506.4(SCARB2):c.612+9A>G rs1255966631
NM_005506.4(SCARB2):c.613-16A>C
NM_005506.4(SCARB2):c.613-7T>C
NM_005506.4(SCARB2):c.678A>G (p.Thr226=) rs987942921
NM_005506.4(SCARB2):c.684T>C (p.Ile228=) rs2109944274
NM_005506.4(SCARB2):c.705-16T>G
NM_005506.4(SCARB2):c.705-19T>C
NM_005506.4(SCARB2):c.72G>T (p.Leu24=) rs2109974267
NM_005506.4(SCARB2):c.78C>A (p.Ala26=)
NM_005506.4(SCARB2):c.78C>G (p.Ala26=) rs756157659
NM_005506.4(SCARB2):c.810A>T (p.Pro270=)
NM_005506.4(SCARB2):c.81G>C (p.Arg27=) rs1481115543
NM_005506.4(SCARB2):c.825-13T>C rs2109942083
NM_005506.4(SCARB2):c.825-17T>C rs2109942090
NM_005506.4(SCARB2):c.84C>T (p.Val28=) rs781459404
NM_005506.4(SCARB2):c.858T>C (p.Ser286=)
NM_005506.4(SCARB2):c.879T>C (p.Phe293=) rs2109941982
NM_005506.4(SCARB2):c.927C>T (p.Ala309=) rs775395230
NM_005506.4(SCARB2):c.994+19G>T rs2109941762
NM_005506.4(SCARB2):c.9A>T (p.Arg3=) rs148558907

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