ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease, type 4B2 by Illumina Clinical Services Laboratory,Illumina

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ClinVar version:
Total variants: 137
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HGVS dbSNP
NM_030962.3(SBF2):c.*1091G>A
NM_030962.3(SBF2):c.*112G>A rs144513995
NM_030962.3(SBF2):c.*1144A>G rs3751001
NM_030962.3(SBF2):c.*1255G>A rs886048774
NM_030962.3(SBF2):c.*1315A>C
NM_030962.3(SBF2):c.*1364C>T rs10118
NM_030962.3(SBF2):c.*1399T>C rs60154961
NM_030962.3(SBF2):c.*1405T>C
NM_030962.3(SBF2):c.*1413A>G rs59613534
NM_030962.3(SBF2):c.*1439C>A rs531522907
NM_030962.3(SBF2):c.*1441C>T rs562275980
NM_030962.3(SBF2):c.*1495T>C
NM_030962.3(SBF2):c.*1515G>A rs1045634
NM_030962.3(SBF2):c.*154C>T
NM_030962.3(SBF2):c.*1619A>C rs360126
NM_030962.3(SBF2):c.*1686G>A rs376521838
NM_030962.3(SBF2):c.*177A>C rs192542785
NM_030962.3(SBF2):c.*19G>A rs770446132
NM_030962.3(SBF2):c.*291C>T rs114604750
NM_030962.3(SBF2):c.*305A>G
NM_030962.3(SBF2):c.*375G>A rs533676532
NM_030962.3(SBF2):c.*375G>C rs533676532
NM_030962.3(SBF2):c.*40A>C rs3751000
NM_030962.3(SBF2):c.*418T>C
NM_030962.3(SBF2):c.*447A>T
NM_030962.3(SBF2):c.*480G>A rs148002177
NM_030962.3(SBF2):c.*514C>T rs3829252
NM_030962.3(SBF2):c.*51T>C rs41275194
NM_030962.3(SBF2):c.*608G>C
NM_030962.3(SBF2):c.*631T>C rs573284772
NM_030962.3(SBF2):c.*730G>A rs886048777
NM_030962.3(SBF2):c.*731T>A
NM_030962.3(SBF2):c.*78G>C
NM_030962.3(SBF2):c.*875G>A rs886048776
NM_030962.3(SBF2):c.*882T>C rs886048775
NM_030962.3(SBF2):c.*963C>T
NM_030962.3(SBF2):c.-101A>C rs886047577
NM_030962.3(SBF2):c.-106C>T rs886047578
NM_030962.3(SBF2):c.-118G>T rs563422015
NM_030962.3(SBF2):c.-128C>T rs886047579
NM_030962.3(SBF2):c.-27C>T
NM_030962.3(SBF2):c.-37G>T rs756232914
NM_030962.3(SBF2):c.-49G>A
NM_030962.3(SBF2):c.-64C>T
NM_030962.3(SBF2):c.1024C>T (p.Arg342Ter) rs1565106242
NM_030962.3(SBF2):c.1173A>G (p.Ala391=) rs79470805
NM_030962.3(SBF2):c.1296+13T>C
NM_030962.3(SBF2):c.129G>A (p.Gln43=) rs761285505
NM_030962.3(SBF2):c.1408C>A (p.Pro470Thr)
NM_030962.3(SBF2):c.1413T>A (p.His471Gln)
NM_030962.3(SBF2):c.1424A>G (p.Gln475Arg) rs199894823
NM_030962.3(SBF2):c.1509A>G (p.Glu503=) rs143773975
NM_030962.3(SBF2):c.1519G>A (p.Glu507Lys) rs139217120
NM_030962.3(SBF2):c.1601-4C>G rs886048784
NM_030962.3(SBF2):c.1799G>A (p.Arg600Gln) rs185968327
NM_030962.3(SBF2):c.1812C>T (p.Asp604=) rs765658939
NM_030962.3(SBF2):c.1861-6T>C
NM_030962.3(SBF2):c.1897G>A (p.Ala633Thr)
NM_030962.3(SBF2):c.1971A>G (p.Val657=) rs368639697
NM_030962.3(SBF2):c.2035G>A (p.Glu679Lys) rs7102464
NM_030962.3(SBF2):c.2100+7G>A rs370918433
NM_030962.3(SBF2):c.2197C>G (p.Gln733Glu) rs145199888
NM_030962.3(SBF2):c.2323G>A (p.Gly775Ser) rs141330687
NM_030962.3(SBF2):c.2337C>T (p.Ser779=) rs140730386
NM_030962.3(SBF2):c.2397A>G (p.Thr799=) rs759550730
NM_030962.3(SBF2):c.23T>G (p.Phe8Cys) rs886047576
NM_030962.3(SBF2):c.2424T>A (p.Asn808Lys) rs146868794
NM_030962.3(SBF2):c.2457T>G (p.Ile819Met) rs746363004
NM_030962.3(SBF2):c.2474A>G (p.Lys825Arg) rs753921188
NM_030962.3(SBF2):c.2537-5C>T rs886048783
NM_030962.3(SBF2):c.2598G>A (p.Pro866=) rs376372877
NM_030962.3(SBF2):c.2600C>T (p.Pro867Leu) rs370198639
NM_030962.3(SBF2):c.2610+11A>G
NM_030962.3(SBF2):c.2669G>A (p.Arg890Gln) rs755699993
NM_030962.3(SBF2):c.2850C>T (p.Ile950=) rs74642088
NM_030962.3(SBF2):c.2863A>G (p.Lys955Glu)
NM_030962.3(SBF2):c.2870C>A (p.Thr957Lys) rs886048782
NM_030962.3(SBF2):c.3001A>T (p.Met1001Leu) rs781742897
NM_030962.3(SBF2):c.3003G>A (p.Met1001Ile)
NM_030962.3(SBF2):c.3006G>T (p.Lys1002Asn) rs572884226
NM_030962.3(SBF2):c.3016C>T (p.Pro1006Ser) rs886048781
NM_030962.3(SBF2):c.3036C>T (p.Thr1012=) rs111967328
NM_030962.3(SBF2):c.3111-6T>C rs16907139
NM_030962.3(SBF2):c.3163A>G (p.Ile1055Val) rs142891020
NM_030962.3(SBF2):c.3257-5C>G rs886048780
NM_030962.3(SBF2):c.3290C>A (p.Thr1097Asn) rs141894081
NM_030962.3(SBF2):c.3292C>G (p.Leu1098Val) rs117957652
NM_030962.3(SBF2):c.3582C>T (p.Leu1194=) rs201514622
NM_030962.3(SBF2):c.3646C>G (p.Gln1216Glu) rs12574508
NM_030962.3(SBF2):c.3754A>T (p.Ser1252Cys) rs139967004
NM_030962.3(SBF2):c.3761T>C (p.Leu1254Pro) rs762211340
NM_030962.3(SBF2):c.3811C>T (p.Arg1271Cys)
NM_030962.3(SBF2):c.3819C>T (p.Ser1273=) rs145351367
NM_030962.3(SBF2):c.3824G>A (p.Arg1275His) rs150028248
NM_030962.3(SBF2):c.3831C>G (p.Ile1277Met) rs139522696
NM_030962.3(SBF2):c.3843A>G (p.Thr1281=) rs147597665
NM_030962.3(SBF2):c.3935G>A (p.Arg1312Gln) rs768571931
NM_030962.3(SBF2):c.4096C>T (p.Pro1366Ser) rs115927577
NM_030962.3(SBF2):c.409C>G (p.Leu137Val)
NM_030962.3(SBF2):c.4107A>C (p.Ser1369=) rs769205402
NM_030962.3(SBF2):c.4128G>A (p.Ala1376=) rs191964053
NM_030962.3(SBF2):c.440G>A (p.Ser147Asn)
NM_030962.3(SBF2):c.4522C>T (p.Arg1508Cys) rs141108330
NM_030962.3(SBF2):c.4533A>G (p.Thr1511=) rs79251068
NM_030962.3(SBF2):c.4563A>T (p.Leu1521Phe) rs148988271
NM_030962.3(SBF2):c.4571-6C>T rs2645029
NM_030962.3(SBF2):c.4712A>G (p.Asn1571Ser) rs371960255
NM_030962.3(SBF2):c.4733A>G (p.Lys1578Arg) rs775360425
NM_030962.3(SBF2):c.479G>T (p.Cys160Phe) rs1214507322
NM_030962.3(SBF2):c.4825T>G (p.Ser1609Ala)
NM_030962.3(SBF2):c.48G>A (p.Glu16=)
NM_030962.3(SBF2):c.4931G>A (p.Ser1644Asn) rs754078134
NM_030962.3(SBF2):c.4932T>C (p.Ser1644=)
NM_030962.3(SBF2):c.4933-15T>C rs75447733
NM_030962.3(SBF2):c.5004C>G (p.Thr1668=)
NM_030962.3(SBF2):c.5004C>T (p.Thr1668=) rs150598413
NM_030962.3(SBF2):c.5035C>T (p.Arg1679Cys) rs79401259
NM_030962.3(SBF2):c.5037C>T (p.Arg1679=) rs200784979
NM_030962.3(SBF2):c.5041C>T (p.Gln1681Ter) rs1343702415
NM_030962.3(SBF2):c.5058A>T (p.Arg1686Ser) rs146230559
NM_030962.3(SBF2):c.513+5A>G
NM_030962.3(SBF2):c.5135G>A (p.Gly1712Glu)
NM_030962.3(SBF2):c.514-12C>T rs770141264
NM_030962.3(SBF2):c.5179C>G (p.Arg1727Gly)
NM_030962.3(SBF2):c.5231+13A>G
NM_030962.3(SBF2):c.5231+14C>T rs371184526
NM_030962.3(SBF2):c.5232-7C>A rs752774091
NM_030962.3(SBF2):c.5296G>A (p.Val1766Ile) rs886048779
NM_030962.3(SBF2):c.546G>T (p.Gln182His) rs886047534
NM_030962.3(SBF2):c.5503G>A (p.Ala1835Thr) rs886048778
NM_030962.3(SBF2):c.645T>C (p.Phe215=) rs148187321
NM_030962.3(SBF2):c.705T>C (p.Ser235=) rs143209062
NM_030962.3(SBF2):c.810G>A (p.Thr270=)
NM_030962.3(SBF2):c.909C>T (p.Pro303=) rs16907355
NM_030962.3(SBF2):c.93T>C (p.Phe31=) rs200263159
NM_030962.3(SBF2):c.942A>G (p.Pro314=) rs753903194
NM_030962.3(SBF2):c.946C>T (p.Leu316=) rs374841593

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