ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 194
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HGVS dbSNP gnomAD frequency
NM_030962.4(SBF2):c.4571-6C>T rs2645029 0.88084
NM_030962.4(SBF2):c.3455+36C>T rs7483882 0.79947
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.2035G>A (p.Glu679Lys) rs7102464 0.08286
NM_030962.4(SBF2):c.3646C>G (p.Gln1216Glu) rs12574508 0.07978
NM_030962.4(SBF2):c.*1619A>C rs360126 0.06845
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.4933-15T>C rs75447733 0.03044
NM_030962.4(SBF2):c.3794-20C>T rs116966215 0.02037
NM_030962.4(SBF2):c.3111-6T>C rs16907139 0.01676
NM_030962.4(SBF2):c.2850C>T (p.Ile950=) rs74642088 0.01620
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.2323G>A (p.Gly775Ser) rs141330687 0.00267
NM_030962.4(SBF2):c.*112G>A rs144513995 0.00201
NM_030962.4(SBF2):c.3036C>T (p.Thr1012=) rs111967328 0.00167
NM_030962.4(SBF2):c.2337C>T (p.Ser779=) rs140730386 0.00144
NM_030962.4(SBF2):c.5014_5016del (p.Lys1672del) rs750958357 0.00065
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.3290C>A (p.Thr1097Asn) rs141894081 0.00054
NM_030962.4(SBF2):c.1408C>A (p.Pro470Thr) rs149967939 0.00052
NM_030962.4(SBF2):c.2081C>T (p.Ala694Val) rs141368249 0.00051
NM_030962.4(SBF2):c.4805A>G (p.Lys1602Arg) rs147772705 0.00048
NM_030962.4(SBF2):c.5037C>T (p.Arg1679=) rs200784979 0.00048
NM_030962.4(SBF2):c.5054C>G (p.Ser1685Trp) rs148468522 0.00048
NM_030962.4(SBF2):c.*875G>A rs886048776 0.00046
NM_030962.4(SBF2):c.5058A>T (p.Arg1686Ser) rs146230559 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.3433A>G (p.Arg1145Gly) rs145647154 0.00023
NM_030962.4(SBF2):c.3831C>G (p.Ile1277Met) rs139522696 0.00020
NM_030962.4(SBF2):c.1967G>C (p.Cys656Ser) rs138120231 0.00019
NM_030962.4(SBF2):c.-101A>C rs886047577 0.00017
NM_030962.4(SBF2):c.4128G>A (p.Ala1376=) rs191964053 0.00017
NM_030962.4(SBF2):c.2319G>A (p.Ala773=) rs201547070 0.00016
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.2197C>G (p.Gln733Glu) rs145199888 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.4712A>G (p.Asn1571Ser) rs371960255 0.00011
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.5037+12A>G rs372500490 0.00009
NM_030962.4(SBF2):c.5231+14C>T rs371184526 0.00008
NM_030962.4(SBF2):c.946C>T (p.Leu316=) rs374841593 0.00008
NM_030962.4(SBF2):c.2436C>T (p.Ala812=) rs374225152 0.00007
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.2424T>A (p.Asn808Lys) rs146868794 0.00006
NM_030962.4(SBF2):c.2598G>A (p.Pro866=) rs376372877 0.00006
NM_030962.4(SBF2):c.3006G>T (p.Lys1002Asn) rs572884226 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.1894G>A (p.Ala632Thr) rs1386270581 0.00004
NM_030962.4(SBF2):c.2474A>G (p.Lys825Arg) rs753921188 0.00004
NM_030962.4(SBF2):c.3163A>G (p.Ile1055Val) rs142891020 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.2457T>G (p.Ile819Met) rs746363004 0.00003
NM_030962.4(SBF2):c.4107A>C (p.Ser1369=) rs769205402 0.00003
NM_030962.4(SBF2):c.48G>A (p.Glu16=) rs889453292 0.00003
NM_030962.4(SBF2):c.93T>C (p.Phe31=) rs200263159 0.00003
NM_030962.4(SBF2):c.-37G>T rs756232914 0.00002
NM_030962.4(SBF2):c.1971A>G (p.Val657=) rs368639697 0.00002
NM_030962.4(SBF2):c.2397A>G (p.Thr799=) rs759550730 0.00002
NM_030962.4(SBF2):c.3935G>A (p.Arg1312Gln) rs768571931 0.00002
NM_030962.4(SBF2):c.4932T>C (p.Ser1644=) rs757095964 0.00002
NM_030962.4(SBF2):c.5036G>A (p.Arg1679His) rs769919130 0.00002
NM_030962.4(SBF2):c.5231+13A>G rs1242027664 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.-106C>T rs886047578 0.00001
NM_030962.4(SBF2):c.-27C>T rs1032915786 0.00001
NM_030962.4(SBF2):c.-49G>A rs1476971148 0.00001
NM_030962.4(SBF2):c.-64C>T rs1010047569 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.1893C>T (p.Ala631=) rs760154688 0.00001
NM_030962.4(SBF2):c.1897G>A (p.Ala633Thr) rs775198025 0.00001
NM_030962.4(SBF2):c.2100+7G>A rs370918433 0.00001
NM_030962.4(SBF2):c.2600C>T (p.Pro867Leu) rs370198639 0.00001
NM_030962.4(SBF2):c.2610+11A>G rs375912268 0.00001
NM_030962.4(SBF2):c.2669G>A (p.Arg890Gln) rs755699993 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.4733A>G (p.Lys1578Arg) rs775360425 0.00001
NM_030962.4(SBF2):c.4931G>A (p.Ser1644Asn) rs754078134 0.00001
NM_030962.4(SBF2):c.5035C>T (p.Arg1679Cys) rs79401259 0.00001
NM_030962.4(SBF2):c.5041C>T (p.Gln1681Ter) rs1343702415 0.00001
NM_030962.4(SBF2):c.5232-7C>A rs752774091 0.00001
NM_030962.4(SBF2):c.5365A>G (p.Ile1789Val) rs746542104 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.1861-6T>C rs77334447
NM_030962.4(SBF2):c.1863T>C (p.Asp621=)
NM_030962.4(SBF2):c.1902_1905dup (p.Pro636fs)
NM_030962.4(SBF2):c.2055T>G (p.Tyr685Ter) rs2134006623
NM_030962.4(SBF2):c.2215G>A (p.Glu739Lys) rs2134001289
NM_030962.4(SBF2):c.2329del (p.Trp777fs)
NM_030962.4(SBF2):c.23T>G (p.Phe8Cys) rs886047576
NM_030962.4(SBF2):c.2537-5C>T rs886048783
NM_030962.4(SBF2):c.2549T>C (p.Met850Thr) rs2133990100
NM_030962.4(SBF2):c.2596C>A (p.Pro866Thr) rs1228676321
NM_030962.4(SBF2):c.2611-35AATC[6] rs202029370
NM_030962.4(SBF2):c.2863A>G (p.Lys955Glu) rs1856598871
NM_030962.4(SBF2):c.2870C>A (p.Thr957Lys) rs886048782
NM_030962.4(SBF2):c.2875C>T (p.Gln959Ter) rs120074137
NM_030962.4(SBF2):c.2894A>G (p.Asn965Ser) rs1008248276
NM_030962.4(SBF2):c.3001A>T (p.Met1001Leu) rs781742897
NM_030962.4(SBF2):c.3003G>A (p.Met1001Ile) rs1856494115
NM_030962.4(SBF2):c.3016C>T (p.Pro1006Ser) rs886048781
NM_030962.4(SBF2):c.3110G>A (p.Arg1037His)
NM_030962.4(SBF2):c.3111-3T>C rs2133961719
NM_030962.4(SBF2):c.3257-5C>G rs886048780
NM_030962.4(SBF2):c.3292C>G (p.Leu1098Val) rs117957652
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.4444-1G>C
NM_030962.4(SBF2):c.479G>T (p.Cys160Phe) rs1214507322
NM_030962.4(SBF2):c.4825T>G (p.Ser1609Ala) rs1852579303
NM_030962.4(SBF2):c.4877del (p.Pro1626fs) rs1852575488
NM_030962.4(SBF2):c.5004C>G (p.Thr1668=) rs150598413
NM_030962.4(SBF2):c.5004C>T (p.Thr1668=) rs150598413
NM_030962.4(SBF2):c.5017GAA[1] (p.Glu1674del) rs572571832
NM_030962.4(SBF2):c.513+5A>G rs1949186125
NM_030962.4(SBF2):c.5135G>A (p.Gly1712Glu) rs757214892
NM_030962.4(SBF2):c.5179C>G (p.Arg1727Gly) rs750756174
NM_030962.4(SBF2):c.5198A>G (p.Tyr1733Cys) rs1334739235
NM_030962.4(SBF2):c.5203C>T (p.Gln1735Ter) rs1590076969
NM_030962.4(SBF2):c.5290del (p.Trp1764fs)
NM_030962.4(SBF2):c.5296G>A (p.Val1766Ile) rs886048779
NM_030962.4(SBF2):c.5503G>A (p.Ala1835Thr) rs886048778
NM_030962.4(SBF2):c.620G>T (p.Gly207Val)
NM_030962.4(SBF2):c.659C>G (p.Thr220Arg)
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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