ClinVar Miner

List of variants in gene SBF2 studied for Charcot-Marie-Tooth disease type 4B2

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 103
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HGVS dbSNP gnomAD frequency
NM_030962.4(SBF2):c.*1364C>T rs10118 0.63186
NM_030962.4(SBF2):c.4156-46C>T rs11042500 0.43551
NM_030962.4(SBF2):c.*514C>T rs3829252 0.33836
NM_030962.4(SBF2):c.*1515G>A rs1045634 0.33744
NM_030962.4(SBF2):c.*40A>C rs3751000 0.30738
NM_030962.4(SBF2):c.753-16T>A rs7128234 0.18140
NM_030962.4(SBF2):c.3646C>G (p.Gln1216Glu) rs12574508 0.07978
NM_030962.4(SBF2):c.*1619A>C rs360126 0.06256
NM_030962.4(SBF2):c.909C>T (p.Pro303=) rs16907355 0.05858
NM_030962.4(SBF2):c.*1144A>G rs3751001 0.04377
NM_030962.4(SBF2):c.3794-20C>T rs116966215 0.02037
NM_030962.4(SBF2):c.513+17G>C rs73410819 0.01551
NM_030962.4(SBF2):c.*1399T>C rs60154961 0.01504
NM_030962.4(SBF2):c.*1413A>G rs59613534 0.01502
NM_030962.4(SBF2):c.4533A>G (p.Thr1511=) rs79251068 0.01066
NM_030962.4(SBF2):c.*177A>C rs192542785 0.00872
NM_030962.4(SBF2):c.*291C>T rs114604750 0.00828
NM_030962.4(SBF2):c.*51T>C rs41275194 0.00749
NM_030962.4(SBF2):c.*1315A>C rs360125 0.00723
NM_030962.4(SBF2):c.1173A>G (p.Ala391=) rs79470805 0.00687
NM_030962.4(SBF2):c.4096C>T (p.Pro1366Ser) rs115927577 0.00548
NM_030962.4(SBF2):c.-118G>T rs563422015 0.00491
NM_030962.4(SBF2):c.645T>C (p.Phe215=) rs148187321 0.00491
NM_030962.4(SBF2):c.*112G>A rs144513995 0.00201
NM_030962.4(SBF2):c.1424A>G (p.Gln475Arg) rs199894823 0.00059
NM_030962.4(SBF2):c.3824G>A (p.Arg1275His) rs150028248 0.00059
NM_030962.4(SBF2):c.1408C>A (p.Pro470Thr) rs149967939 0.00052
NM_030962.4(SBF2):c.*875G>A rs886048776 0.00046
NM_030962.4(SBF2):c.*631T>C rs573284772 0.00043
NM_030962.4(SBF2):c.*1439C>A rs531522907 0.00042
NM_030962.4(SBF2):c.*1441C>T rs562275980 0.00042
NM_030962.4(SBF2):c.705T>C (p.Ser235=) rs143209062 0.00033
NM_030962.4(SBF2):c.1509A>G (p.Glu503=) rs143773975 0.00030
NM_030962.4(SBF2):c.3819C>T (p.Ser1273=) rs145351367 0.00030
NM_030962.4(SBF2):c.*480G>A rs148002177 0.00029
NM_030962.4(SBF2):c.1519G>A (p.Glu507Lys) rs139217120 0.00029
NM_030962.4(SBF2):c.4522C>T (p.Arg1508Cys) rs141108330 0.00029
NM_030962.4(SBF2):c.*963C>T rs144512459 0.00028
NM_030962.4(SBF2):c.4515G>A (p.Val1505=) rs144935862 0.00025
NM_030962.4(SBF2):c.3831C>G (p.Ile1277Met) rs139522696 0.00020
NM_030962.4(SBF2):c.4128G>A (p.Ala1376=) rs191964053 0.00017
NM_030962.4(SBF2):c.3843A>G (p.Thr1281=) rs147597665 0.00016
NM_030962.4(SBF2):c.514-12C>T rs770141264 0.00016
NM_030962.4(SBF2):c.-128C>T rs886047579 0.00015
NM_030962.4(SBF2):c.1812C>T (p.Asp604=) rs765658939 0.00015
NM_030962.4(SBF2):c.*608G>C rs776490076 0.00014
NM_030962.4(SBF2):c.3754A>T (p.Ser1252Cys) rs139967004 0.00014
NM_030962.4(SBF2):c.*1091G>A rs182391972 0.00013
NM_030962.4(SBF2):c.1498C>T (p.Arg500Trp) rs146366305 0.00012
NM_030962.4(SBF2):c.*78G>C rs184117822 0.00009
NM_030962.4(SBF2):c.1296+13T>C rs376685939 0.00009
NM_030962.4(SBF2):c.946C>T (p.Leu316=) rs374841593 0.00008
NM_030962.4(SBF2):c.3574A>G (p.Thr1192Ala) rs761285334 0.00007
NM_030962.4(SBF2):c.*1495T>C rs929359339 0.00006
NM_030962.4(SBF2):c.*305A>G rs905556733 0.00006
NM_030962.4(SBF2):c.3989T>C (p.Val1330Ala) rs147350002 0.00006
NM_030962.4(SBF2):c.4563A>T (p.Leu1521Phe) rs148988271 0.00005
NM_030962.4(SBF2):c.129G>A (p.Gln43=) rs761285505 0.00004
NM_030962.4(SBF2):c.3582C>T (p.Leu1194=) rs201514622 0.00004
NM_030962.4(SBF2):c.810G>A (p.Thr270=) rs769963369 0.00004
NM_030962.4(SBF2):c.4107A>C (p.Ser1369=) rs769205402 0.00003
NM_030962.4(SBF2):c.93T>C (p.Phe31=) rs200263159 0.00003
NM_030962.4(SBF2):c.3935G>A (p.Arg1312Gln) rs768571931 0.00002
NM_030962.4(SBF2):c.*1255G>A rs886048774 0.00001
NM_030962.4(SBF2):c.*1405T>C rs997066238 0.00001
NM_030962.4(SBF2):c.*1686G>A rs376521838 0.00001
NM_030962.4(SBF2):c.*19G>A rs770446132 0.00001
NM_030962.4(SBF2):c.*418T>C rs985803879 0.00001
NM_030962.4(SBF2):c.*730G>A rs886048777 0.00001
NM_030962.4(SBF2):c.*731T>A rs1239478451 0.00001
NM_030962.4(SBF2):c.1024C>T (p.Arg342Ter) rs1565106242 0.00001
NM_030962.4(SBF2):c.1799G>A (p.Arg600Gln) rs185968327 0.00001
NM_030962.4(SBF2):c.3653-1G>A rs145183196 0.00001
NM_030962.4(SBF2):c.3811C>T (p.Arg1271Cys) rs765001700 0.00001
NM_030962.4(SBF2):c.3887C>T (p.Ser1296Leu) rs767811228 0.00001
NM_030962.4(SBF2):c.4416C>T (p.Phe1472=) rs1347990916 0.00001
NM_030962.4(SBF2):c.4459C>T (p.Pro1487Ser) rs1590103742 0.00001
NM_030962.4(SBF2):c.546G>T (p.Gln182His) rs886047534 0.00001
NM_030962.4(SBF2):c.854A>G (p.His285Arg) rs146971151 0.00001
NM_030962.4(SBF2):c.942A>G (p.Pro314=) rs753903194 0.00001
NM_030962.4(SBF2):c.*154C>T rs1590064987
NM_030962.4(SBF2):c.*375G>A rs533676532
NM_030962.4(SBF2):c.*375G>C rs533676532
NM_030962.4(SBF2):c.*447A>T rs192282549
NM_030962.4(SBF2):c.*882T>C rs886048775
NM_030962.4(SBF2):c.1088_1296+646del
NM_030962.4(SBF2):c.1413T>A (p.His471Gln) rs769911496
NM_030962.4(SBF2):c.1459C>T (p.Arg487Ter) rs120074139
NM_030962.4(SBF2):c.1601-4C>G rs886048784
NM_030962.4(SBF2):c.161G>A (p.Trp54Ter) rs1166873755
NM_030962.4(SBF2):c.3586C>T (p.Arg1196Ter) rs120074138
NM_030962.4(SBF2):c.3761T>C (p.Leu1254Pro) rs762211340
NM_030962.4(SBF2):c.3888G>A (p.Ser1296=) rs375669985
NM_030962.4(SBF2):c.409C>G (p.Leu137Val) rs200954150
NM_030962.4(SBF2):c.4331_4332del (p.Lys1444fs) rs1853955279
NM_030962.4(SBF2):c.440G>A (p.Ser147Asn) rs1949190497
NM_030962.4(SBF2):c.4443+1G>C rs1564872328
NM_030962.4(SBF2):c.479G>T (p.Cys160Phe) rs1214507322
NM_030962.4(SBF2):c.513+5A>G rs1949186125
NM_030962.4(SBF2):c.5503G>A (p.Ala1835Thr) rs886048778
NM_030962.4(SBF2):c.776C>T (p.Pro259Leu)
NM_030962.4(SBF2):c.815dup (p.Ile273fs)
NM_030962.4(SBF2):c.862-7C>G

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