ClinVar Miner

List of variants in gene SBF2 reported as uncertain significance for Charcot-Marie-Tooth disease

Included ClinVar conditions (138):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 289
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HGVS dbSNP
NC_000011.10:g.(?_10028442)_(10193997_?)del
NC_000011.10:g.(?_10294005)_(10294079_?)dup
NC_000011.10:g.(?_9807990)_(9858406_?)del
NM_030962.3(SBF2):c.*1255G>A rs886048774
NM_030962.3(SBF2):c.*1315A>C
NM_030962.3(SBF2):c.*1405T>C
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.*154C>T
NM_030962.3(SBF2):c.*1686G>A rs376521838
NM_030962.3(SBF2):c.*19G>A rs770446132
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.*418T>C
NM_030962.3(SBF2):c.*447A>T
NM_030962.3(SBF2):c.*480G>A rs148002177
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.-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.1015C>G (p.Pro339Ala)
NM_030962.3(SBF2):c.1024C>T (p.Arg342Ter) rs1565106242
NM_030962.3(SBF2):c.1045A>G (p.Lys349Glu) rs746685729
NM_030962.3(SBF2):c.1050G>A (p.Met350Ile)
NM_030962.3(SBF2):c.1061A>C (p.Glu354Ala) rs761829741
NM_030962.3(SBF2):c.1066C>T (p.Arg356Ter) rs1032796987
NM_030962.3(SBF2):c.1067G>A (p.Arg356Gln) rs188588431
NM_030962.3(SBF2):c.1072G>A (p.Val358Ile)
NM_030962.3(SBF2):c.1124A>G (p.Gln375Arg) rs770153492
NM_030962.3(SBF2):c.1130T>C (p.Ile377Thr) rs371432409
NM_030962.3(SBF2):c.1130T>G (p.Ile377Arg) rs371432409
NM_030962.3(SBF2):c.1158T>G (p.His386Gln)
NM_030962.3(SBF2):c.1183C>A (p.Gln395Lys) rs1590699984
NM_030962.3(SBF2):c.118C>T (p.Pro40Ser)
NM_030962.3(SBF2):c.1210C>T (p.Leu404Phe)
NM_030962.3(SBF2):c.1216A>G (p.Lys406Glu)
NM_030962.3(SBF2):c.1222C>G (p.Leu408Val) rs1220835376
NM_030962.3(SBF2):c.1226G>T (p.Ser409Ile) rs1183650459
NM_030962.3(SBF2):c.1240G>A (p.Ala414Thr)
NM_030962.3(SBF2):c.1244G>T (p.Gly415Val)
NM_030962.3(SBF2):c.1296+13T>C
NM_030962.3(SBF2):c.129G>A (p.Gln43=) rs761285505
NM_030962.3(SBF2):c.1327G>C (p.Val443Leu) rs765958389
NM_030962.3(SBF2):c.1333G>A (p.Glu445Lys) rs1565100821
NM_030962.3(SBF2):c.1337A>G (p.Asn446Ser) rs762615474
NM_030962.3(SBF2):c.1345G>C (p.Val449Leu)
NM_030962.3(SBF2):c.136G>C (p.Glu46Gln) rs878855130
NM_030962.3(SBF2):c.1396-3C>G
NM_030962.3(SBF2):c.1396-6T>C rs369973804
NM_030962.3(SBF2):c.1408C>A (p.Pro470Thr)
NM_030962.3(SBF2):c.141+5G>A
NM_030962.3(SBF2):c.1413T>A (p.His471Gln)
NM_030962.3(SBF2):c.1414A>G (p.Met472Val) rs1590636623
NM_030962.3(SBF2):c.1424A>G (p.Gln475Arg) rs199894823
NM_030962.3(SBF2):c.1436G>A (p.Arg479Gln)
NM_030962.3(SBF2):c.1459C>T (p.Arg487Ter) rs120074139
NM_030962.3(SBF2):c.1499G>A (p.Arg500Gln) rs759084094
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.1537C>T (p.Gln513Ter) rs1480710758
NM_030962.3(SBF2):c.1559G>A (p.Arg520Gln) rs546485749
NM_030962.3(SBF2):c.1563A>G (p.Ile521Met)
NM_030962.3(SBF2):c.1573T>C (p.Cys525Arg) rs746860317
NM_030962.3(SBF2):c.1580T>C (p.Val527Ala)
NM_030962.3(SBF2):c.1594C>T (p.Pro532Ser) rs1001858508
NM_030962.3(SBF2):c.1600G>C (p.Val534Leu) rs1590635892
NM_030962.3(SBF2):c.1601-10C>A
NM_030962.3(SBF2):c.1601-4C>G rs886048784
NM_030962.3(SBF2):c.1604C>T (p.Ser535Leu)
NM_030962.3(SBF2):c.1610T>C (p.Met537Thr) rs1278738726
NM_030962.3(SBF2):c.1615A>G (p.Lys539Glu)
NM_030962.3(SBF2):c.1618G>T (p.Val540Leu) rs201806063
NM_030962.3(SBF2):c.1622C>T (p.Thr541Met)
NM_030962.3(SBF2):c.1632C>A (p.Phe544Leu)
NM_030962.3(SBF2):c.1768G>A (p.Asp590Asn) rs1565064376
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.1831A>T (p.Ile611Leu)
NM_030962.3(SBF2):c.1847A>G (p.Asn616Ser)
NM_030962.3(SBF2):c.1852A>G (p.Thr618Ala)
NM_030962.3(SBF2):c.190A>G (p.Thr64Ala) rs374114606
NM_030962.3(SBF2):c.195C>G (p.Phe65Leu)
NM_030962.3(SBF2):c.215A>C (p.Asp72Ala) rs1060500000
NM_030962.3(SBF2):c.23T>G (p.Phe8Cys) rs886047576
NM_030962.3(SBF2):c.257A>T (p.Tyr86Phe) rs745669920
NM_030962.3(SBF2):c.266A>C (p.Glu89Ala)
NM_030962.3(SBF2):c.279+4C>A rs757128114
NM_030962.3(SBF2):c.30G>A (p.Val10=)
NM_030962.3(SBF2):c.313A>G (p.Lys105Glu) rs139730490
NM_030962.3(SBF2):c.3457T>C (p.Tyr1153His) rs1060499998
NM_030962.3(SBF2):c.3466C>T (p.Leu1156Phe) rs1433995523
NM_030962.3(SBF2):c.3479C>T (p.Pro1160Leu) rs1233967178
NM_030962.3(SBF2):c.3517C>T (p.Arg1173Cys)
NM_030962.3(SBF2):c.3518G>A (p.Arg1173His)
NM_030962.3(SBF2):c.3574A>G (p.Thr1192Ala) rs761285334
NM_030962.3(SBF2):c.3582C>T (p.Leu1194=) rs201514622
NM_030962.3(SBF2):c.3587G>A (p.Arg1196Gln) rs376309876
NM_030962.3(SBF2):c.3598T>C (p.Phe1200Leu)
NM_030962.3(SBF2):c.3617T>C (p.Val1206Ala) rs766573319
NM_030962.3(SBF2):c.3644C>G (p.Pro1215Arg)
NM_030962.3(SBF2):c.3658A>G (p.Thr1220Ala)
NM_030962.3(SBF2):c.3668T>C (p.Leu1223Ser)
NM_030962.3(SBF2):c.3674C>A (p.Ser1225Tyr)
NM_030962.3(SBF2):c.3679A>G (p.Ser1227Gly)
NM_030962.3(SBF2):c.3680G>C (p.Ser1227Thr)
NM_030962.3(SBF2):c.3686T>C (p.Ile1229Thr)
NM_030962.3(SBF2):c.3712T>A (p.Leu1238Ile) rs1564890006
NM_030962.3(SBF2):c.3741A>T (p.Lys1247Asn)
NM_030962.3(SBF2):c.3745A>G (p.Arg1249Gly) rs1554914278
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.3812G>A (p.Arg1271His) rs201249004
NM_030962.3(SBF2):c.3818G>A (p.Ser1273Asn)
NM_030962.3(SBF2):c.3819C>T (p.Ser1273=) rs145351367
NM_030962.3(SBF2):c.3823C>G (p.Arg1275Gly) rs956737183
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.3865C>T (p.Arg1289Trp) rs145107442
NM_030962.3(SBF2):c.3866G>A (p.Arg1289Gln) rs757836523
NM_030962.3(SBF2):c.3871G>C (p.Ala1291Pro) rs1488414945
NM_030962.3(SBF2):c.3877A>G (p.Lys1293Glu) rs200594508
NM_030962.3(SBF2):c.3887C>T (p.Ser1296Leu) rs767811228
NM_030962.3(SBF2):c.389C>T (p.Pro130Leu) rs1201147678
NM_030962.3(SBF2):c.38A>C (p.Tyr13Ser) rs1591380986
NM_030962.3(SBF2):c.3902A>G (p.Asn1301Ser)
NM_030962.3(SBF2):c.3931A>G (p.Lys1311Glu) rs200167746
NM_030962.3(SBF2):c.3935G>A (p.Arg1312Gln) rs768571931
NM_030962.3(SBF2):c.3938A>G (p.Gln1313Arg) rs1554909178
NM_030962.3(SBF2):c.3968C>T (p.Ser1323Leu)
NM_030962.3(SBF2):c.3989T>C (p.Val1330Ala) rs147350002
NM_030962.3(SBF2):c.4038C>G (p.Ile1346Met) rs752638300
NM_030962.3(SBF2):c.4039C>T (p.Arg1347Trp)
NM_030962.3(SBF2):c.409C>G (p.Leu137Val)
NM_030962.3(SBF2):c.4102G>A (p.Asp1368Asn) rs144063037
NM_030962.3(SBF2):c.4107A>C (p.Ser1369=) rs769205402
NM_030962.3(SBF2):c.4120C>G (p.Leu1374Val) rs746286799
NM_030962.3(SBF2):c.4121T>G (p.Leu1374Arg)
NM_030962.3(SBF2):c.4133G>A (p.Gly1378Glu)
NM_030962.3(SBF2):c.413G>C (p.Gly138Ala)
NM_030962.3(SBF2):c.4146G>C (p.Trp1382Cys)
NM_030962.3(SBF2):c.4156C>G (p.Leu1386Val) rs771436343
NM_030962.3(SBF2):c.415T>G (p.Leu139Val) rs146361949
NM_030962.3(SBF2):c.4186G>A (p.Val1396Ile)
NM_030962.3(SBF2):c.4204A>C (p.Asn1402His) rs1590132478
NM_030962.3(SBF2):c.4247T>C (p.Ile1416Thr)
NM_030962.3(SBF2):c.4257+6C>G
NM_030962.3(SBF2):c.427G>A (p.Val143Met) rs142469360
NM_030962.3(SBF2):c.4283G>T (p.Ser1428Ile)
NM_030962.3(SBF2):c.4299G>C (p.Arg1433Ser) rs1590131053
NM_030962.3(SBF2):c.4332A>C (p.Lys1444Asn)
NM_030962.3(SBF2):c.4355A>G (p.Lys1452Arg)
NM_030962.3(SBF2):c.4373G>A (p.Ser1458Asn)
NM_030962.3(SBF2):c.4384A>T (p.Asn1462Tyr)
NM_030962.3(SBF2):c.4394G>A (p.Gly1465Glu) rs762165359
NM_030962.3(SBF2):c.440G>A (p.Ser147Asn)
NM_030962.3(SBF2):c.4420C>G (p.Gln1474Glu) rs1590130857
NM_030962.3(SBF2):c.4443+1G>C rs1564872328
NM_030962.3(SBF2):c.4443+6T>C rs1450773584
NM_030962.3(SBF2):c.4459C>T (p.Pro1487Ser) rs1590103742
NM_030962.3(SBF2):c.4465G>A (p.Glu1489Lys) rs864622502
NM_030962.3(SBF2):c.446A>G (p.Asn149Ser) rs1337725457
NM_030962.3(SBF2):c.4522C>G (p.Arg1508Gly)
NM_030962.3(SBF2):c.4522C>T (p.Arg1508Cys) rs141108330
NM_030962.3(SBF2):c.4523G>A (p.Arg1508His) rs770619905
NM_030962.3(SBF2):c.4563A>T (p.Leu1521Phe) rs148988271
NM_030962.3(SBF2):c.4564G>C (p.Glu1522Gln)
NM_030962.3(SBF2):c.456G>A (p.Leu152=)
NM_030962.3(SBF2):c.4588A>G (p.Lys1530Glu)
NM_030962.3(SBF2):c.45C>G (p.His15Gln)
NM_030962.3(SBF2):c.4603G>A (p.Ala1535Thr) rs546392558
NM_030962.3(SBF2):c.4666T>C (p.Phe1556Leu) rs189911105
NM_030962.3(SBF2):c.4712A>G (p.Asn1571Ser) rs371960255
NM_030962.3(SBF2):c.4712A>T (p.Asn1571Ile)
NM_030962.3(SBF2):c.4733A>G (p.Lys1578Arg) rs775360425
NM_030962.3(SBF2):c.4782T>G (p.Tyr1594Ter) rs1384571991
NM_030962.3(SBF2):c.4799C>G (p.Thr1600Ser) rs183468503
NM_030962.3(SBF2):c.479G>T (p.Cys160Phe) rs1214507322
NM_030962.3(SBF2):c.4805A>G (p.Lys1602Arg) rs147772705
NM_030962.3(SBF2):c.4825T>G (p.Ser1609Ala)
NM_030962.3(SBF2):c.4840G>A (p.Glu1614Lys)
NM_030962.3(SBF2):c.4853G>A (p.Arg1618Gln) rs770439158
NM_030962.3(SBF2):c.4890T>A (p.Asp1630Glu) rs963997810
NM_030962.3(SBF2):c.48G>A (p.Glu16=) rs889453292
NM_030962.3(SBF2):c.4931G>A (p.Ser1644Asn) rs754078134
NM_030962.3(SBF2):c.4932T>C (p.Ser1644=) rs757095964
NM_030962.3(SBF2):c.4933-13_4933-9del rs767990042
NM_030962.3(SBF2):c.4960A>C (p.Asn1654His) rs927212697
NM_030962.3(SBF2):c.4967C>T (p.Ala1656Val)
NM_030962.3(SBF2):c.4970C>T (p.Pro1657Leu) rs771021009
NM_030962.3(SBF2):c.4981C>G (p.Gln1661Glu)
NM_030962.3(SBF2):c.5004C>G (p.Thr1668=) rs150598413
NM_030962.3(SBF2):c.5004C>T (p.Thr1668=) rs150598413
NM_030962.3(SBF2):c.5005G>A (p.Val1669Met)
NM_030962.3(SBF2):c.5010C>A (p.Asp1670Glu)
NM_030962.3(SBF2):c.5010C>G (p.Asp1670Glu)
NM_030962.3(SBF2):c.5014_5016del (p.Lys1672del) rs750958357
NM_030962.3(SBF2):c.5016A>G (p.Lys1672=) rs1564852595
NM_030962.3(SBF2):c.5017G>A (p.Glu1673Lys) rs764823510
NM_030962.3(SBF2):c.5017_5019GAA[1] (p.Glu1674del) rs572571832
NM_030962.3(SBF2):c.5035C>T (p.Arg1679Cys) rs79401259
NM_030962.3(SBF2):c.5036G>A (p.Arg1679His) rs769919130
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.5054C>G (p.Ser1685Trp) rs148468522
NM_030962.3(SBF2):c.5058A>T (p.Arg1686Ser) rs146230559
NM_030962.3(SBF2):c.5074T>C (p.Ser1692Pro)
NM_030962.3(SBF2):c.5077A>T (p.Thr1693Ser)
NM_030962.3(SBF2):c.5102G>A (p.Arg1701Lys) rs914679014
NM_030962.3(SBF2):c.513+4A>G rs1554990552
NM_030962.3(SBF2):c.513+5A>G
NM_030962.3(SBF2):c.5135G>A (p.Gly1712Glu)
NM_030962.3(SBF2):c.5135G>T (p.Gly1712Val) rs757214892
NM_030962.3(SBF2):c.514-12C>T rs770141264
NM_030962.3(SBF2):c.5179C>G (p.Arg1727Gly)
NM_030962.3(SBF2):c.5200A>C (p.Ser1734Arg) rs1411871638
NM_030962.3(SBF2):c.5205G>C (p.Gln1735His) rs878855131
NM_030962.3(SBF2):c.5209A>T (p.Thr1737Ser) rs1564850356
NM_030962.3(SBF2):c.5231+13A>G
NM_030962.3(SBF2):c.5232-7C>A rs752774091
NM_030962.3(SBF2):c.5245A>G (p.Thr1749Ala) rs1288312315
NM_030962.3(SBF2):c.5249T>C (p.Leu1750Pro)
NM_030962.3(SBF2):c.5258G>A (p.Arg1753Lys)
NM_030962.3(SBF2):c.527T>C (p.Leu176Ser) rs1554990128
NM_030962.3(SBF2):c.5285C>T (p.Pro1762Leu)
NM_030962.3(SBF2):c.5296G>A (p.Val1766Ile) rs886048779
NM_030962.3(SBF2):c.5323C>T (p.Arg1775Cys)
NM_030962.3(SBF2):c.5324G>A (p.Arg1775His) rs574665066
NM_030962.3(SBF2):c.5365A>G (p.Ile1789Val) rs746542104
NM_030962.3(SBF2):c.5375C>G (p.Ala1792Gly) rs1554897834
NM_030962.3(SBF2):c.5375C>T (p.Ala1792Val) rs1554897834
NM_030962.3(SBF2):c.5399C>T (p.Ala1800Val)
NM_030962.3(SBF2):c.5410A>G (p.Met1804Val) rs755264093
NM_030962.3(SBF2):c.5437A>G (p.Lys1813Glu) rs1590068012
NM_030962.3(SBF2):c.5438A>C (p.Lys1813Thr)
NM_030962.3(SBF2):c.5468G>A (p.Arg1823His)
NM_030962.3(SBF2):c.546G>T (p.Gln182His) rs886047534
NM_030962.3(SBF2):c.5483G>A (p.Cys1828Tyr) rs146064484
NM_030962.3(SBF2):c.5498A>G (p.Gln1833Arg) rs763965438
NM_030962.3(SBF2):c.5503G>A (p.Ala1835Thr) rs886048778
NM_030962.3(SBF2):c.565C>T (p.His189Tyr)
NM_030962.3(SBF2):c.566A>G (p.His189Arg)
NM_030962.3(SBF2):c.568G>A (p.Asp190Asn) rs201738577
NM_030962.3(SBF2):c.56G>T (p.Gly19Val)
NM_030962.3(SBF2):c.580A>C (p.Ile194Leu)
NM_030962.3(SBF2):c.586G>A (p.Gly196Ser) rs150725040
NM_030962.3(SBF2):c.614A>C (p.Gln205Pro)
NM_030962.3(SBF2):c.61G>A (p.Gly21Arg)
NM_030962.3(SBF2):c.620-10dup
NM_030962.3(SBF2):c.700C>T (p.Leu234Phe) rs749378136
NM_030962.3(SBF2):c.703A>G (p.Ser235Gly)
NM_030962.3(SBF2):c.705T>C (p.Ser235=) rs143209062
NM_030962.3(SBF2):c.735G>A (p.Met245Ile) rs1554981022
NM_030962.3(SBF2):c.747A>G (p.Lys249=) rs1554981019
NM_030962.3(SBF2):c.761A>G (p.Tyr254Cys)
NM_030962.3(SBF2):c.763A>G (p.Ile255Val) rs1259744769
NM_030962.3(SBF2):c.769A>G (p.Ile257Val) rs756866661
NM_030962.3(SBF2):c.777G>A (p.Pro259=) rs142261202
NM_030962.3(SBF2):c.783G>T (p.Gln261His) rs759932929
NM_030962.3(SBF2):c.793G>T (p.Val265Phe)
NM_030962.3(SBF2):c.796C>G (p.Leu266Val) rs1565116051
NM_030962.3(SBF2):c.808A>G (p.Thr270Ala)
NM_030962.3(SBF2):c.810G>A (p.Thr270=)
NM_030962.3(SBF2):c.832T>A (p.Ser278Thr) rs746749228
NM_030962.3(SBF2):c.861+5G>C rs879253963
NM_030962.3(SBF2):c.862-2A>G rs1590716243
NM_030962.3(SBF2):c.869T>G (p.Val290Gly) rs771827174
NM_030962.3(SBF2):c.87G>C (p.Gln29His) rs751336040
NM_030962.3(SBF2):c.898A>G (p.Ile300Val) rs141669540
NM_030962.3(SBF2):c.8G>A (p.Arg3Gln)
NM_030962.3(SBF2):c.913T>C (p.Cys305Arg)
NM_030962.3(SBF2):c.925T>G (p.Ser309Ala) rs1300253311
NM_030962.3(SBF2):c.942A>G (p.Pro314=) rs753903194
NM_030962.3(SBF2):c.946C>T (p.Leu316=) rs374841593
NM_030962.3(SBF2):c.975+8A>G rs371861993

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