ClinVar Miner

List of variants in gene BCS1L reported as likely benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 267
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HGVS dbSNP gnomAD frequency
NM_001079866.2(BCS1L):c.-49-595A>G rs77487601 0.01635
NM_001079866.2(BCS1L):c.-49-435del rs146786097 0.01347
NM_001079866.2(BCS1L):c.720-86_720-85del rs373333569 0.00574
NM_001079866.2(BCS1L):c.-49-530C>T rs115162602 0.00544
NM_001079866.2(BCS1L):c.-50+555C>A rs138294740 0.00478
NM_001079866.2(BCS1L):c.775T>A (p.Ser259Thr) rs77729067 0.00132
NM_001079866.2(BCS1L):c.1000G>A (p.Val334Ile) rs146731467 0.00086
NM_001079866.2(BCS1L):c.126A>G (p.Ala42=) rs144200704 0.00039
NM_001079866.2(BCS1L):c.64C>T (p.Leu22=) rs777854606 0.00027
NM_001079866.2(BCS1L):c.1044C>T (p.Asp348=) rs148941016 0.00024
NM_001079866.2(BCS1L):c.461-9C>T rs780651750 0.00021
NM_001079866.2(BCS1L):c.612C>T (p.Asp204=) rs201726747 0.00014
NM_001079866.2(BCS1L):c.822G>A (p.Pro274=) rs112329020 0.00014
NM_001079866.2(BCS1L):c.702C>T (p.Cys234=) rs140405116 0.00012
NM_001079866.2(BCS1L):c.303T>G (p.Pro101=) rs138756092 0.00011
NM_001079866.2(BCS1L):c.771G>A (p.Thr257=) rs148302981 0.00011
NM_001079866.2(BCS1L):c.1185G>A (p.Gln395=) rs370453639 0.00010
NM_001079866.2(BCS1L):c.1007+5G>A rs373812068 0.00008
NM_001079866.2(BCS1L):c.201C>T (p.Leu67=) rs142540289 0.00007
NM_001079866.2(BCS1L):c.217C>T (p.Arg73Cys) rs140812286 0.00006
NM_001079866.2(BCS1L):c.656-5C>T rs576259405 0.00006
NM_001079866.2(BCS1L):c.171C>T (p.Asp57=) rs756932413 0.00005
NM_001079866.2(BCS1L):c.627C>T (p.Ile209=) rs374582626 0.00004
NM_001079866.2(BCS1L):c.645C>T (p.Tyr215=) rs181882427 0.00004
NM_001079866.2(BCS1L):c.798C>G (p.Leu266=) rs1000259331 0.00004
NM_001079866.2(BCS1L):c.813C>T (p.Ser271=) rs146782209 0.00004
NM_001079866.2(BCS1L):c.936G>C (p.Leu312=) rs765324054 0.00004
NM_001079866.2(BCS1L):c.1257G>A (p.Arg419=) rs763971734 0.00003
NM_001079866.2(BCS1L):c.384G>A (p.Thr128=) rs1027271702 0.00003
NM_001079866.2(BCS1L):c.1008-5C>A rs373671954 0.00002
NM_001079866.2(BCS1L):c.111A>G (p.Gln37=) rs371806604 0.00002
NM_001079866.2(BCS1L):c.1197C>T (p.Tyr399=) rs1320820621 0.00002
NM_001079866.2(BCS1L):c.180T>C (p.Tyr60=) rs928774770 0.00002
NM_001079866.2(BCS1L):c.633C>T (p.Asn211=) rs143363480 0.00002
NM_001079866.2(BCS1L):c.1007+10A>G rs752868592 0.00001
NM_001079866.2(BCS1L):c.1056C>T (p.Tyr352=) rs754988448 0.00001
NM_001079866.2(BCS1L):c.1140T>C (p.Phe380=) rs1481734088 0.00001
NM_001079866.2(BCS1L):c.1218C>T (p.Asp406=) rs1309567004 0.00001
NM_001079866.2(BCS1L):c.183C>T (p.Ala61=) rs779908221 0.00001
NM_001079866.2(BCS1L):c.237C>T (p.Val79=) rs757259048 0.00001
NM_001079866.2(BCS1L):c.258T>C (p.His86=) rs886055627 0.00001
NM_001079866.2(BCS1L):c.321-12G>A rs776363896 0.00001
NM_001079866.2(BCS1L):c.345A>G (p.Val115=) rs1939419139 0.00001
NM_001079866.2(BCS1L):c.348A>G (p.Glu116=) rs1285254792 0.00001
NM_001079866.2(BCS1L):c.435G>A (p.Lys145=) rs1376788052 0.00001
NM_001079866.2(BCS1L):c.561A>G (p.Pro187=) rs772279247 0.00001
NM_001079866.2(BCS1L):c.577C>T (p.Leu193=) rs372926306 0.00001
NM_001079866.2(BCS1L):c.656-4C>T rs895806794 0.00001
NM_001079866.2(BCS1L):c.656-7T>C rs949856961 0.00001
NM_001079866.2(BCS1L):c.753C>A (p.Ile251=) rs757887088 0.00001
NM_001079866.2(BCS1L):c.768C>G (p.Leu256=) rs781666793 0.00001
NM_001079866.2(BCS1L):c.808C>T (p.Leu270=) rs1032203654 0.00001
NM_001079866.2(BCS1L):c.810G>A (p.Leu270=) rs371242452 0.00001
NM_001079866.2(BCS1L):c.816G>C (p.Val272=) rs1559318813 0.00001
NM_001079866.2(BCS1L):c.825G>A (p.Gln275=) rs1185169786 0.00001
NM_001079866.2(BCS1L):c.876C>T (p.Asp292=) rs756477155 0.00001
NM_001079866.2(BCS1L):c.885G>A (p.Val295=) rs754039539 0.00001
NM_001079866.2(BCS1L):c.889+9G>C rs1277883054 0.00001
NM_001079866.2(BCS1L):c.910C>T (p.Leu304=) rs761284622 0.00001
NM_001079866.2(BCS1L):c.921C>T (p.Leu307=) rs754225834 0.00001
NM_001079866.2(BCS1L):c.966C>T (p.Thr322=) rs745785523 0.00001
NM_001079866.2(BCS1L):c.999C>T (p.His333=) rs200593699 0.00001
NM_001079866.2(BCS1L):c.1007+12C>T
NM_001079866.2(BCS1L):c.1007+14A>G
NM_001079866.2(BCS1L):c.1007+17C>T
NM_001079866.2(BCS1L):c.1007+8G>A rs559519953
NM_001079866.2(BCS1L):c.1007+9G>A
NM_001079866.2(BCS1L):c.1008-13T>G
NM_001079866.2(BCS1L):c.1008-13del
NM_001079866.2(BCS1L):c.1008-15C>G
NM_001079866.2(BCS1L):c.1008-5C>T rs373671954
NM_001079866.2(BCS1L):c.102G>A (p.Lys34=)
NM_001079866.2(BCS1L):c.1036C>A (p.Arg346=)
NM_001079866.2(BCS1L):c.1041G>A (p.Val347=)
NM_001079866.2(BCS1L):c.1047G>T (p.Leu349=)
NM_001079866.2(BCS1L):c.1050G>A (p.Lys350=)
NM_001079866.2(BCS1L):c.105T>C (p.Gly35=)
NM_001079866.2(BCS1L):c.1074C>A (p.His358Gln)
NM_001079866.2(BCS1L):c.1074C>T (p.His358=) rs752599536
NM_001079866.2(BCS1L):c.108C>G (p.Val36=)
NM_001079866.2(BCS1L):c.1113G>A (p.Gly371=)
NM_001079866.2(BCS1L):c.1122T>C (p.Pro374=)
NM_001079866.2(BCS1L):c.1125C>T (p.Ser375=)
NM_001079866.2(BCS1L):c.1128A>G (p.Leu376=)
NM_001079866.2(BCS1L):c.112C>T (p.Leu38=) rs886055626
NM_001079866.2(BCS1L):c.1143A>C (p.Ala381=)
NM_001079866.2(BCS1L):c.1143A>G (p.Ala381=)
NM_001079866.2(BCS1L):c.1149T>C (p.His383=) rs1479475784
NM_001079866.2(BCS1L):c.1156C>A (p.Arg386=) rs2106332781
NM_001079866.2(BCS1L):c.1167C>T (p.Asn389=)
NM_001079866.2(BCS1L):c.1176T>C (p.Ser392=)
NM_001079866.2(BCS1L):c.1182C>A (p.Ala394=)
NM_001079866.2(BCS1L):c.1188G>A (p.Val396=) rs2106332946
NM_001079866.2(BCS1L):c.118C>T (p.Leu40=) rs1008438066
NM_001079866.2(BCS1L):c.1191G>A (p.Gln397=) rs2106332970
NM_001079866.2(BCS1L):c.1224A>G (p.Val408=)
NM_001079866.2(BCS1L):c.1236C>T (p.His412=)
NM_001079866.2(BCS1L):c.132G>C (p.Arg44=)
NM_001079866.2(BCS1L):c.147C>T (p.Ile49=) rs1939353429
NM_001079866.2(BCS1L):c.150A>G (p.Thr50=) rs779179182
NM_001079866.2(BCS1L):c.153G>T (p.Leu51=) rs1939355201
NM_001079866.2(BCS1L):c.159C>A (p.Val53=) rs1178383633
NM_001079866.2(BCS1L):c.172A>C (p.Arg58=)
NM_001079866.2(BCS1L):c.174G>A (p.Arg58=)
NM_001079866.2(BCS1L):c.189G>A (p.Leu63=)
NM_001079866.2(BCS1L):c.204C>T (p.Thr68=) rs2106321958
NM_001079866.2(BCS1L):c.210C>T (p.His70=) rs1168607396
NM_001079866.2(BCS1L):c.216C>G (p.Thr72=) rs2106322095
NM_001079866.2(BCS1L):c.21T>A (p.Ile7=) rs1575104769
NM_001079866.2(BCS1L):c.234T>C (p.Ser78=)
NM_001079866.2(BCS1L):c.243T>A (p.Thr81=) rs528557556
NM_001079866.2(BCS1L):c.243T>C (p.Thr81=) rs528557556
NM_001079866.2(BCS1L):c.246G>A (p.Ser82=)
NM_001079866.2(BCS1L):c.246G>T (p.Ser82=) rs754918671
NM_001079866.2(BCS1L):c.24G>A (p.Leu8=)
NM_001079866.2(BCS1L):c.279T>C (p.Thr93=)
NM_001079866.2(BCS1L):c.285T>C (p.Phe95=)
NM_001079866.2(BCS1L):c.28C>T (p.Leu10=)
NM_001079866.2(BCS1L):c.291T>C (p.Phe97=) rs1221325194
NM_001079866.2(BCS1L):c.309C>T (p.Asn103=) rs376836925
NM_001079866.2(BCS1L):c.318C>T (p.Ile106=)
NM_001079866.2(BCS1L):c.320+10G>A
NM_001079866.2(BCS1L):c.320+8G>A rs2106322853
NM_001079866.2(BCS1L):c.321-10del
NM_001079866.2(BCS1L):c.321-13C>T
NM_001079866.2(BCS1L):c.321-15A>G
NM_001079866.2(BCS1L):c.321-16G>C
NM_001079866.2(BCS1L):c.321-4T>G rs2106323614
NM_001079866.2(BCS1L):c.321-7T>C rs764447616
NM_001079866.2(BCS1L):c.326G>A (p.Arg109Gln)
NM_001079866.2(BCS1L):c.333A>G (p.Lys111=) rs2106323751
NM_001079866.2(BCS1L):c.349C>A (p.Arg117=) rs777735526
NM_001079866.2(BCS1L):c.360G>A (p.Glu120=)
NM_001079866.2(BCS1L):c.366G>A (p.Gln122=) rs2106324018
NM_001079866.2(BCS1L):c.378G>A (p.Leu126=)
NM_001079866.2(BCS1L):c.387G>A (p.Gly129=) rs1939428306
NM_001079866.2(BCS1L):c.387G>T (p.Gly129=)
NM_001079866.2(BCS1L):c.393T>C (p.Pro131=) rs2106324185
NM_001079866.2(BCS1L):c.411C>T (p.Phe137=)
NM_001079866.2(BCS1L):c.414G>A (p.Thr138=)
NM_001079866.2(BCS1L):c.420G>A (p.Leu140=)
NM_001079866.2(BCS1L):c.420G>C (p.Leu140=) rs768958849
NM_001079866.2(BCS1L):c.426T>C (p.Thr142=) rs1179813328
NM_001079866.2(BCS1L):c.432A>C (p.Arg144=) rs1335460302
NM_001079866.2(BCS1L):c.432A>G (p.Arg144=) rs1335460302
NM_001079866.2(BCS1L):c.450C>T (p.Ile150=) rs750499133
NM_001079866.2(BCS1L):c.456G>A (p.Glu152=)
NM_001079866.2(BCS1L):c.460+11del rs756708393
NM_001079866.2(BCS1L):c.460+16G>A
NM_001079866.2(BCS1L):c.460+17G>T
NM_001079866.2(BCS1L):c.460+31G>A
NM_001079866.2(BCS1L):c.460+33C>T
NM_001079866.2(BCS1L):c.460+34A>G
NM_001079866.2(BCS1L):c.460+38C>G
NM_001079866.2(BCS1L):c.460+52T>C
NM_001079866.2(BCS1L):c.460+7G>A
NM_001079866.2(BCS1L):c.460+9T>C
NM_001079866.2(BCS1L):c.461-10T>C
NM_001079866.2(BCS1L):c.461-12_461-10del rs767028489
NM_001079866.2(BCS1L):c.461-15T>C
NM_001079866.2(BCS1L):c.461-16A>T
NM_001079866.2(BCS1L):c.461-16_461-14del
NM_001079866.2(BCS1L):c.461-17C>T
NM_001079866.2(BCS1L):c.461-3del
NM_001079866.2(BCS1L):c.461-5C>G rs779638704
NM_001079866.2(BCS1L):c.461-5C>T rs779638704
NM_001079866.2(BCS1L):c.461-8del
NM_001079866.2(BCS1L):c.461-9_461-7del rs770698586
NM_001079866.2(BCS1L):c.465A>G (p.Arg155=) rs1575107729
NM_001079866.2(BCS1L):c.469C>T (p.Leu157=)
NM_001079866.2(BCS1L):c.471A>G (p.Leu157=) rs2106325805
NM_001079866.2(BCS1L):c.475T>C (p.Leu159=)
NM_001079866.2(BCS1L):c.498C>A (p.Thr166=) rs144714144
NM_001079866.2(BCS1L):c.498C>G (p.Thr166=) rs144714144
NM_001079866.2(BCS1L):c.498C>T (p.Thr166=) rs144714144
NM_001079866.2(BCS1L):c.516G>A (p.Val172=)
NM_001079866.2(BCS1L):c.534C>G (p.Pro178=) rs2106326079
NM_001079866.2(BCS1L):c.549C>G (p.Arg183=)
NM_001079866.2(BCS1L):c.549C>T (p.Arg183=) rs1395368389
NM_001079866.2(BCS1L):c.54T>C (p.Ala18=) rs988837836
NM_001079866.2(BCS1L):c.553C>A (p.Arg185=)
NM_001079866.2(BCS1L):c.555G>A (p.Arg185=)
NM_001079866.2(BCS1L):c.567T>C (p.Asn189=) rs2106326243
NM_001079866.2(BCS1L):c.589C>T (p.Leu197=)
NM_001079866.2(BCS1L):c.594T>A (p.Ala198=) rs2106326334
NM_001079866.2(BCS1L):c.597C>T (p.Asp199=) rs2106326346
NM_001079866.2(BCS1L):c.615C>A (p.Val205=) rs2106326436
NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn) rs58447305
NM_001079866.2(BCS1L):c.630T>C (p.Asp210=)
NM_001079866.2(BCS1L):c.636C>T (p.Pro212=)
NM_001079866.2(BCS1L):c.648T>A (p.Thr216=)
NM_001079866.2(BCS1L):c.648T>C (p.Thr216=) rs2106326567
NM_001079866.2(BCS1L):c.651C>T (p.Asp217=) rs2106326583
NM_001079866.2(BCS1L):c.655+15G>T
NM_001079866.2(BCS1L):c.655+17G>A
NM_001079866.2(BCS1L):c.655+17G>C
NM_001079866.2(BCS1L):c.655+9C>G rs2106326637
NM_001079866.2(BCS1L):c.655+9C>T rs2106326637
NM_001079866.2(BCS1L):c.656-11T>C
NM_001079866.2(BCS1L):c.656-17C>T
NM_001079866.2(BCS1L):c.666C>T (p.Tyr222=) rs2106327660
NM_001079866.2(BCS1L):c.678C>T (p.Tyr226=) rs1939544625
NM_001079866.2(BCS1L):c.679C>T (p.Leu227=) rs1939544956
NM_001079866.2(BCS1L):c.681G>A (p.Leu227=)
NM_001079866.2(BCS1L):c.690G>A (p.Gly230=)
NM_001079866.2(BCS1L):c.693C>T (p.Pro231=)
NM_001079866.2(BCS1L):c.699T>C (p.Gly233=)
NM_001079866.2(BCS1L):c.699T>G (p.Gly233=)
NM_001079866.2(BCS1L):c.705A>G (p.Gly235=) rs1939548651
NM_001079866.2(BCS1L):c.708G>A (p.Lys236=) rs2106327819
NM_001079866.2(BCS1L):c.719+16T>G
NM_001079866.2(BCS1L):c.719+17TC[2]
NM_001079866.2(BCS1L):c.719+18C>G
NM_001079866.2(BCS1L):c.719+7A>G rs2106327866
NM_001079866.2(BCS1L):c.720-4A>G
NM_001079866.2(BCS1L):c.720-7T>C rs2106329024
NM_001079866.2(BCS1L):c.720-8C>T
NM_001079866.2(BCS1L):c.726C>T (p.Ala242=)
NM_001079866.2(BCS1L):c.738A>G (p.Glu246=)
NM_001079866.2(BCS1L):c.741G>A (p.Leu247=)
NM_001079866.2(BCS1L):c.741G>C (p.Leu247=) rs1263104419
NM_001079866.2(BCS1L):c.747C>T (p.His249=)
NM_001079866.2(BCS1L):c.753C>T (p.Ile251=)
NM_001079866.2(BCS1L):c.759G>A (p.Leu253=) rs2106329174
NM_001079866.2(BCS1L):c.75G>C (p.Val25=)
NM_001079866.2(BCS1L):c.774C>T (p.Asp258=)
NM_001079866.2(BCS1L):c.777C>T (p.Ser259=)
NM_001079866.2(BCS1L):c.783C>T (p.Leu261=)
NM_001079866.2(BCS1L):c.789T>C (p.Asp263=) rs538854947
NM_001079866.2(BCS1L):c.78C>T (p.Gly26=)
NM_001079866.2(BCS1L):c.804C>T (p.His268=) rs2106329378
NM_001079866.2(BCS1L):c.807G>A (p.Leu269=) rs1432793731
NM_001079866.2(BCS1L):c.816G>A (p.Val272=)
NM_001079866.2(BCS1L):c.819C>T (p.Ala273=) rs2106329469
NM_001079866.2(BCS1L):c.828G>A (p.Gln276=) rs2106329526
NM_001079866.2(BCS1L):c.837A>C (p.Val279=) rs2106329545
NM_001079866.2(BCS1L):c.840C>T (p.Leu280=) rs1939601774
NM_001079866.2(BCS1L):c.846G>A (p.Glu282=)
NM_001079866.2(BCS1L):c.855T>C (p.Asp285=)
NM_001079866.2(BCS1L):c.889+11G>A
NM_001079866.2(BCS1L):c.889+12G>A
NM_001079866.2(BCS1L):c.889+12del rs773210885
NM_001079866.2(BCS1L):c.889+17G>A
NM_001079866.2(BCS1L):c.889+9G>A
NM_001079866.2(BCS1L):c.890-10C>T
NM_001079866.2(BCS1L):c.890-16C>T
NM_001079866.2(BCS1L):c.890-19T>C
NM_001079866.2(BCS1L):c.890-4C>T
NM_001079866.2(BCS1L):c.890-5T>A
NM_001079866.2(BCS1L):c.890-6C>T rs2106330666
NM_001079866.2(BCS1L):c.890-7C>G
NM_001079866.2(BCS1L):c.890-8T>C
NM_001079866.2(BCS1L):c.894A>G (p.Pro298=)
NM_001079866.2(BCS1L):c.912A>T (p.Leu304=) rs1347254618
NM_001079866.2(BCS1L):c.915T>G (p.Gly305=)
NM_001079866.2(BCS1L):c.918C>T (p.Arg306=) rs766737254
NM_001079866.2(BCS1L):c.930T>C (p.Ser310=)
NM_001079866.2(BCS1L):c.939C>T (p.Leu313=) rs2106330875
NM_001079866.2(BCS1L):c.942T>C (p.Asn314=)
NM_001079866.2(BCS1L):c.945C>A (p.Ala315=)
NM_001079866.2(BCS1L):c.966C>A (p.Thr322=)
NM_001079866.2(BCS1L):c.966C>G (p.Thr322=)
NM_001079866.2(BCS1L):c.96C>T (p.Ala32=) rs2106321134
NM_001079866.2(BCS1L):c.978C>T (p.Ile326=) rs1264772334
NM_001079866.2(BCS1L):c.984C>T (p.Phe328=)
NM_001079866.2(BCS1L):c.990C>G (p.Thr330=) rs771655220
NM_001079866.2(BCS1L):c.993C>T (p.Thr331=)

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