ClinVar Miner

List of variants in gene combination BSCL2, HNRNPUL2-BSCL2 reported as likely benign for Charcot-Marie-Tooth disease type 2

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Gene type:
ClinVar version:
Total variants: 184
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HGVS dbSNP gnomAD frequency
NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu) rs144245125 0.00048
NM_001122955.4(BSCL2):c.1031C>T (p.Ser344Phe) rs140676897 0.00043
NM_001122955.4(BSCL2):c.1102C>A (p.Gln368Lys) rs149990643 0.00040
NM_001122955.4(BSCL2):c.823G>A (p.Gly275Arg) rs151018278 0.00036
NM_001122955.4(BSCL2):c.624G>A (p.Ser208=) rs138532996 0.00024
NM_001122955.4(BSCL2):c.615C>T (p.Ser205=) rs140208002 0.00019
NM_001122955.4(BSCL2):c.1367G>A (p.Arg456His) rs149466797 0.00016
NM_001122955.4(BSCL2):c.1234+11T>A rs369813738 0.00011
NM_001122955.4(BSCL2):c.1234+7G>A rs200631909 0.00011
NM_001122955.4(BSCL2):c.588C>T (p.Cys196=) rs369806785 0.00011
NM_001122955.4(BSCL2):c.745G>A (p.Ala249Thr) rs10776 0.00010
NM_001122955.4(BSCL2):c.432A>T (p.Ser144=) rs144774892 0.00006
NM_001122955.4(BSCL2):c.885G>A (p.Pro295=) rs559783362 0.00005
NM_001122955.4(BSCL2):c.1017A>G (p.Arg339=) rs147902831 0.00004
NM_001122955.4(BSCL2):c.1234+14T>G rs778380128 0.00004
NM_001122955.4(BSCL2):c.621T>C (p.Ser207=) rs777598096 0.00004
NM_001122955.4(BSCL2):c.846G>A (p.Ala282=) rs375554369 0.00004
NM_001122955.4(BSCL2):c.870G>C (p.Leu290=) rs767104988 0.00004
NM_001122955.4(BSCL2):c.1235-6G>A rs762484263 0.00003
NM_001122955.4(BSCL2):c.333C>T (p.Phe111=) rs142016433 0.00003
NM_001122955.4(BSCL2):c.532C>G (p.Leu178Val) rs760613992 0.00003
NM_001122955.4(BSCL2):c.786G>A (p.Ala262=) rs780533531 0.00003
NM_001122955.4(BSCL2):c.1200C>T (p.Ser400=) rs766492897 0.00002
NM_001122955.4(BSCL2):c.404+10G>A rs992580580 0.00002
NM_001122955.4(BSCL2):c.404+15C>G rs200598473 0.00002
NM_001122955.4(BSCL2):c.405-20C>T rs778111224 0.00002
NM_001122955.4(BSCL2):c.420C>T (p.Ser140=) rs780093151 0.00002
NM_001122955.4(BSCL2):c.645C>T (p.Tyr215=) rs1339749955 0.00002
NM_001122955.4(BSCL2):c.1005+18C>A rs1474695153 0.00001
NM_001122955.4(BSCL2):c.1006-4A>C rs751265217 0.00001
NM_001122955.4(BSCL2):c.1047A>G (p.Gln349=) rs769021944 0.00001
NM_001122955.4(BSCL2):c.1101G>A (p.Pro367=) rs746737457 0.00001
NM_001122955.4(BSCL2):c.1153+16C>T rs369798542 0.00001
NM_001122955.4(BSCL2):c.1153+7C>T rs758675404 0.00001
NM_001122955.4(BSCL2):c.1153+8G>A rs372839524 0.00001
NM_001122955.4(BSCL2):c.1234+19C>T rs748453195 0.00001
NM_001122955.4(BSCL2):c.1235-17T>C rs764000384 0.00001
NM_001122955.4(BSCL2):c.1235-4C>T rs775246044 0.00001
NM_001122955.4(BSCL2):c.1251A>G (p.Glu417=) rs768646836 0.00001
NM_001122955.4(BSCL2):c.1254T>C (p.Asp418=) rs776343859 0.00001
NM_001122955.4(BSCL2):c.1269G>A (p.Thr423=) rs748736063 0.00001
NM_001122955.4(BSCL2):c.1320A>G (p.Leu440=) rs376418772 0.00001
NM_001122955.4(BSCL2):c.249C>T (p.Val83=) rs746722132 0.00001
NM_001122955.4(BSCL2):c.336C>G (p.Leu112=) rs545775232 0.00001
NM_001122955.4(BSCL2):c.345C>T (p.Ser115=) rs200922424 0.00001
NM_001122955.4(BSCL2):c.408C>T (p.Thr136=) rs754001369 0.00001
NM_001122955.4(BSCL2):c.423C>T (p.Ser141=) rs756135904 0.00001
NM_001122955.4(BSCL2):c.441C>T (p.Ser147=) rs267603078 0.00001
NM_001122955.4(BSCL2):c.462G>A (p.Ser154=) rs766801709 0.00001
NM_001122955.4(BSCL2):c.487-9C>T rs768857448 0.00001
NM_001122955.4(BSCL2):c.507G>A (p.Pro169=) rs145393127 0.00001
NM_001122955.4(BSCL2):c.585C>G (p.Ser195=) rs571672404 0.00001
NM_001122955.4(BSCL2):c.631-6C>T rs768294248 0.00001
NM_001122955.4(BSCL2):c.660C>T (p.Leu220=) rs950978890 0.00001
NM_001122955.4(BSCL2):c.753T>C (p.Tyr251=) rs773290851 0.00001
NM_001122955.4(BSCL2):c.774G>A (p.Pro258=) rs754629431 0.00001
NM_001122955.4(BSCL2):c.843C>T (p.His281=) rs1188344099 0.00001
NM_001122955.4(BSCL2):c.849C>T (p.His283=) rs911982128 0.00001
NM_001122955.4(BSCL2):c.864-6C>T rs1945308147 0.00001
NM_001122955.4(BSCL2):c.864-8T>C rs1373992341 0.00001
NM_001122955.4(BSCL2):c.927C>T (p.Phe309=) rs1346512157 0.00001
NM_001122955.4(BSCL2):c.933C>T (p.Ser311=) rs748195771 0.00001
NM_001122955.4(BSCL2):c.984C>T (p.Pro328=) rs1350933194 0.00001
NM_001122955.4(BSCL2):c.1005+11_1005+16del
NM_001122955.4(BSCL2):c.1005+14A>G
NM_001122955.4(BSCL2):c.1005+15G>T
NM_001122955.4(BSCL2):c.1005+16G>A
NM_001122955.4(BSCL2):c.1005+19C>T
NM_001122955.4(BSCL2):c.1005+4G>T rs367731146
NM_001122955.4(BSCL2):c.1005+8G>T rs864622631
NM_001122955.4(BSCL2):c.1006-20C>T
NM_001122955.4(BSCL2):c.1006-8C>T rs1057521013
NM_001122955.4(BSCL2):c.1014C>A (p.Ile338=)
NM_001122955.4(BSCL2):c.1014C>T (p.Ile338=)
NM_001122955.4(BSCL2):c.1051A>C (p.Arg351=)
NM_001122955.4(BSCL2):c.1072+16G>C
NM_001122955.4(BSCL2):c.1072+7dup rs1554982976
NM_001122955.4(BSCL2):c.1073-14C>T rs759489687
NM_001122955.4(BSCL2):c.1073-16C>G
NM_001122955.4(BSCL2):c.1073-16C>T
NM_001122955.4(BSCL2):c.1073-16del
NM_001122955.4(BSCL2):c.1073-8A>T rs2134690260
NM_001122955.4(BSCL2):c.1083C>T (p.Gly361=)
NM_001122955.4(BSCL2):c.1089G>A (p.Glu363=)
NM_001122955.4(BSCL2):c.1110T>C (p.Asp370=)
NM_001122955.4(BSCL2):c.1119G>A (p.Glu373=) rs2134689968
NM_001122955.4(BSCL2):c.1143C>G (p.Pro381=) rs150914934
NM_001122955.4(BSCL2):c.1143C>T (p.Pro381=)
NM_001122955.4(BSCL2):c.1153+12C>T
NM_001122955.4(BSCL2):c.1154-13C>T
NM_001122955.4(BSCL2):c.1154-14C>A
NM_001122955.4(BSCL2):c.1154-20C>T
NM_001122955.4(BSCL2):c.1167C>T (p.Ser389=) rs17850877
NM_001122955.4(BSCL2):c.1207GAG[1] (p.Glu404del) rs556562410
NM_001122955.4(BSCL2):c.1212G>A (p.Glu404=) rs563653317
NM_001122955.4(BSCL2):c.1230T>C (p.Ser410=)
NM_001122955.4(BSCL2):c.1234+19C>A
NM_001122955.4(BSCL2):c.1239A>G (p.Ser413=)
NM_001122955.4(BSCL2):c.1242C>G (p.Gly414=) rs1945277080
NM_001122955.4(BSCL2):c.1279C>T (p.Leu427=)
NM_001122955.4(BSCL2):c.1311C>T (p.Ala437=) rs1945274691
NM_001122955.4(BSCL2):c.1314T>C (p.Pro438=)
NM_001122955.4(BSCL2):c.1341A>G (p.Glu447=)
NM_001122955.4(BSCL2):c.1359C>G (p.Leu453=) rs1426557167
NM_001122955.4(BSCL2):c.1368C>T (p.Arg456=) rs2134688373
NM_001122955.4(BSCL2):c.1371C>A (p.Pro457=)
NM_001122955.4(BSCL2):c.1374C>T (p.Thr458=) rs1590867827
NM_001122955.4(BSCL2):c.219C>G (p.Ala73=)
NM_001122955.4(BSCL2):c.234G>A (p.Gln78=) rs2083512739
NM_001122955.4(BSCL2):c.264C>A (p.Ala88=) rs2134740784
NM_001122955.4(BSCL2):c.270G>A (p.Arg90=)
NM_001122955.4(BSCL2):c.273G>A (p.Leu91=) rs572867847
NM_001122955.4(BSCL2):c.276G>A (p.Leu92=)
NM_001122955.4(BSCL2):c.294C>T (p.Leu98=)
NM_001122955.4(BSCL2):c.297C>T (p.Phe99=) rs1590885150
NM_001122955.4(BSCL2):c.348C>T (p.Phe116=) rs1590885075
NM_001122955.4(BSCL2):c.354T>C (p.Tyr118=)
NM_001122955.4(BSCL2):c.357C>T (p.Ser119=)
NM_001122955.4(BSCL2):c.404+11C>A
NM_001122955.4(BSCL2):c.404+11C>G rs375818964
NM_001122955.4(BSCL2):c.404+11C>T
NM_001122955.4(BSCL2):c.404+14_404+16del
NM_001122955.4(BSCL2):c.404+16T>C
NM_001122955.4(BSCL2):c.404+17A>G
NM_001122955.4(BSCL2):c.405-16del
NM_001122955.4(BSCL2):c.405-19C>G
NM_001122955.4(BSCL2):c.405-21TCC[2] rs768556778
NM_001122955.4(BSCL2):c.405-7C>T rs1554985037
NM_001122955.4(BSCL2):c.456T>C (p.Asn152=)
NM_001122955.4(BSCL2):c.480T>C (p.Arg160=) rs2134729590
NM_001122955.4(BSCL2):c.486+7A>G rs1554984999
NM_001122955.4(BSCL2):c.486+8T>G rs1238731769
NM_001122955.4(BSCL2):c.487-19T>C
NM_001122955.4(BSCL2):c.487-4G>A
NM_001122955.4(BSCL2):c.501A>G (p.Gly167=) rs1590873161
NM_001122955.4(BSCL2):c.507G>C (p.Pro169=) rs145393127
NM_001122955.4(BSCL2):c.507G>T (p.Pro169=) rs145393127
NM_001122955.4(BSCL2):c.528T>G (p.Leu176=)
NM_001122955.4(BSCL2):c.546T>A (p.Pro182=) rs753309219
NM_001122955.4(BSCL2):c.546T>C (p.Pro182=) rs753309219
NM_001122955.4(BSCL2):c.549G>A (p.Val183=)
NM_001122955.4(BSCL2):c.571T>C (p.Leu191=)
NM_001122955.4(BSCL2):c.612C>T (p.Ile204=) rs1590872981
NM_001122955.4(BSCL2):c.618T>C (p.Thr206=)
NM_001122955.4(BSCL2):c.630+12_630+14del rs1045195404
NM_001122955.4(BSCL2):c.630+15C>G
NM_001122955.4(BSCL2):c.631-13C>T
NM_001122955.4(BSCL2):c.631-14C>T
NM_001122955.4(BSCL2):c.631-6C>G rs768294248
NM_001122955.4(BSCL2):c.631-7C>A rs1945347921
NM_001122955.4(BSCL2):c.631-9C>G
NM_001122955.4(BSCL2):c.631-9C>T rs1245552202
NM_001122955.4(BSCL2):c.633G>A (p.Val211=)
NM_001122955.4(BSCL2):c.633G>T (p.Val211=)
NM_001122955.4(BSCL2):c.675A>G (p.Thr225=)
NM_001122955.4(BSCL2):c.675A>T (p.Thr225=) rs2134696441
NM_001122955.4(BSCL2):c.678G>A (p.Leu226=) rs2134696423
NM_001122955.4(BSCL2):c.684C>T (p.Phe228=)
NM_001122955.4(BSCL2):c.735G>A (p.Val245=)
NM_001122955.4(BSCL2):c.744C>T (p.Tyr248=)
NM_001122955.4(BSCL2):c.747A>G (p.Ala249=)
NM_001122955.4(BSCL2):c.759G>A (p.Glu253=)
NM_001122955.4(BSCL2):c.765+7G>C
NM_001122955.4(BSCL2):c.766-10C>G rs367716875
NM_001122955.4(BSCL2):c.768C>T (p.Tyr256=) rs746544677
NM_001122955.4(BSCL2):c.792T>C (p.Ile264=) rs1590870663
NM_001122955.4(BSCL2):c.810C>T (p.Arg270=) rs998498207
NM_001122955.4(BSCL2):c.813C>T (p.Ile271=)
NM_001122955.4(BSCL2):c.816G>A (p.Gln272=)
NM_001122955.4(BSCL2):c.819G>A (p.Leu273=)
NM_001122955.4(BSCL2):c.837C>T (p.Arg279=)
NM_001122955.4(BSCL2):c.863+10del rs2134695116
NM_001122955.4(BSCL2):c.863+14T>C
NM_001122955.4(BSCL2):c.864-13C>A
NM_001122955.4(BSCL2):c.864-9del
NM_001122955.4(BSCL2):c.873A>G (p.Leu291=)
NM_001122955.4(BSCL2):c.873A>T (p.Leu291=)
NM_001122955.4(BSCL2):c.894C>T (p.Cys298=)
NM_001122955.4(BSCL2):c.897C>G (p.Ala299=)
NM_001122955.4(BSCL2):c.897C>T (p.Ala299=) rs2134692099
NM_001122955.4(BSCL2):c.906T>G (p.Gly302=) rs1590869477
NM_001122955.4(BSCL2):c.909T>G (p.Val303=)
NM_001122955.4(BSCL2):c.960G>A (p.Gln320=) rs1158119987
NM_001122955.4(BSCL2):c.984C>G (p.Pro328=)

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