ClinVar Miner

List of variants in gene SBF2 reported as likely benign for Charcot-Marie-Tooth disease type 4

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 275
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HGVS dbSNP gnomAD frequency
NM_030962.4(SBF2):c.3969G>A (p.Ser1323=) rs77833016 0.00067
NM_030962.4(SBF2):c.4054A>G (p.Ser1352Gly) rs201951073 0.00046
NM_030962.4(SBF2):c.291G>A (p.Lys97=) rs150056369 0.00039
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.1623G>A (p.Thr541=) rs184849947 0.00028
NM_030962.4(SBF2):c.513+18A>T rs201201683 0.00027
NM_030962.4(SBF2):c.4515G>A (p.Val1505=) rs144935862 0.00025
NM_030962.4(SBF2):c.56-8A>C rs369979138 0.00021
NM_030962.4(SBF2):c.3652+18A>C rs569103394 0.00020
NM_030962.4(SBF2):c.651A>G (p.Ala217=) rs200293270 0.00019
NM_030962.4(SBF2):c.3843A>G (p.Thr1281=) rs147597665 0.00016
NM_030962.4(SBF2):c.1812C>T (p.Asp604=) rs765658939 0.00015
NM_030962.4(SBF2):c.3754A>T (p.Ser1252Cys) rs139967004 0.00014
NM_030962.4(SBF2):c.4095C>T (p.Ile1365=) rs142904756 0.00011
NM_030962.4(SBF2):c.1296+13T>C rs376685939 0.00009
NM_030962.4(SBF2):c.280-5T>C rs368118378 0.00009
NM_030962.4(SBF2):c.5484C>T (p.Cys1828=) rs149571145 0.00009
NM_030962.4(SBF2):c.5526C>A (p.Ile1842=) rs376788960 0.00009
NM_030962.4(SBF2):c.4512T>C (p.Tyr1504=) rs772156530 0.00008
NM_030962.4(SBF2):c.774C>A (p.Leu258=) rs887509504 0.00008
NM_030962.4(SBF2):c.946C>T (p.Leu316=) rs374841593 0.00008
NM_030962.4(SBF2):c.5469T>C (p.Arg1823=) rs373457270 0.00006
NM_030962.4(SBF2):c.4263A>G (p.Thr1421=) rs368381654 0.00005
NM_030962.4(SBF2):c.129G>A (p.Gln43=) rs761285505 0.00004
NM_030962.4(SBF2):c.1396-6T>C rs369973804 0.00004
NM_030962.4(SBF2):c.1569G>A (p.Lys523=) rs776951161 0.00004
NM_030962.4(SBF2):c.3582C>T (p.Leu1194=) rs201514622 0.00004
NM_030962.4(SBF2):c.4101T>G (p.Thr1367=) rs766353139 0.00004
NM_030962.4(SBF2):c.5493T>C (p.Asp1831=) rs779051883 0.00004
NM_030962.4(SBF2):c.798A>G (p.Leu266=) rs138122773 0.00004
NM_030962.4(SBF2):c.810G>A (p.Thr270=) rs769963369 0.00004
NM_030962.4(SBF2):c.1383A>G (p.Gln461=) rs151036108 0.00003
NM_030962.4(SBF2):c.258T>C (p.Tyr86=) rs778681306 0.00003
NM_030962.4(SBF2):c.3540G>C (p.Leu1180=) rs766137744 0.00003
NM_030962.4(SBF2):c.3708A>G (p.Gln1236=) rs1371647333 0.00003
NM_030962.4(SBF2):c.403-8T>C rs755029382 0.00003
NM_030962.4(SBF2):c.4107A>C (p.Ser1369=) rs769205402 0.00003
NM_030962.4(SBF2):c.600T>C (p.Ala200=) rs770433606 0.00003
NM_030962.4(SBF2):c.984C>T (p.His328=) rs367717680 0.00003
NM_030962.4(SBF2):c.993G>A (p.Leu331=) rs766193938 0.00003
NM_030962.4(SBF2):c.1164C>T (p.His388=) rs959559753 0.00002
NM_030962.4(SBF2):c.142-11A>G rs539146891 0.00002
NM_030962.4(SBF2):c.3744C>G (p.Leu1248=) rs752703631 0.00002
NM_030962.4(SBF2):c.3858T>C (p.Val1286=) rs768590614 0.00002
NM_030962.4(SBF2):c.3978+7T>C rs1416833371 0.00002
NM_030962.4(SBF2):c.402+15G>A rs780717348 0.00002
NM_030962.4(SBF2):c.409C>T (p.Leu137=) rs200954150 0.00002
NM_030962.4(SBF2):c.4570+18C>T rs754163697 0.00002
NM_030962.4(SBF2):c.5452-18T>C rs774923587 0.00002
NM_030962.4(SBF2):c.1053+8G>A rs779888479 0.00001
NM_030962.4(SBF2):c.1062G>A (p.Glu354=) rs376956314 0.00001
NM_030962.4(SBF2):c.1071C>T (p.Ala357=) rs775272908 0.00001
NM_030962.4(SBF2):c.1167+20T>C rs1947507309 0.00001
NM_030962.4(SBF2):c.1168-10T>C rs769153339 0.00001
NM_030962.4(SBF2):c.1236A>G (p.Ala412=) rs1947481198 0.00001
NM_030962.4(SBF2):c.1296+12A>G rs762099135 0.00001
NM_030962.4(SBF2):c.1296+7C>T rs774033750 0.00001
NM_030962.4(SBF2):c.1386A>G (p.Leu462=) rs774591496 0.00001
NM_030962.4(SBF2):c.141+9T>A rs760322801 0.00001
NM_030962.4(SBF2):c.142-20T>G rs748235053 0.00001
NM_030962.4(SBF2):c.1584A>G (p.Pro528=) rs778311686 0.00001
NM_030962.4(SBF2):c.1593A>G (p.Pro531=) rs1245602198 0.00001
NM_030962.4(SBF2):c.1635C>T (p.Asn545=) rs1160157353 0.00001
NM_030962.4(SBF2):c.1653A>G (p.Glu551=) rs942849510 0.00001
NM_030962.4(SBF2):c.1725A>C (p.Ala575=) rs144514407 0.00001
NM_030962.4(SBF2):c.1770T>C (p.Asp590=) rs149269991 0.00001
NM_030962.4(SBF2):c.1815T>C (p.His605=) rs1388471263 0.00001
NM_030962.4(SBF2):c.1839G>A (p.Arg613=) rs776414901 0.00001
NM_030962.4(SBF2):c.1854T>G (p.Thr618=) rs1224103000 0.00001
NM_030962.4(SBF2):c.1860+12T>C rs375954445 0.00001
NM_030962.4(SBF2):c.192G>A (p.Thr64=) rs763363470 0.00001
NM_030962.4(SBF2):c.318G>A (p.Val106=) rs757678568 0.00001
NM_030962.4(SBF2):c.3474C>T (p.Val1158=) rs376295625 0.00001
NM_030962.4(SBF2):c.354C>T (p.Pro118=) rs371771984 0.00001
NM_030962.4(SBF2):c.3615C>T (p.Val1205=) rs751734412 0.00001
NM_030962.4(SBF2):c.3651C>T (p.Ala1217=) rs550913752 0.00001
NM_030962.4(SBF2):c.3652+15A>G rs367955902 0.00001
NM_030962.4(SBF2):c.3762T>G (p.Leu1254=) rs776896848 0.00001
NM_030962.4(SBF2):c.3794-19G>A rs779377326 0.00001
NM_030962.4(SBF2):c.3876C>A (p.Gly1292=) rs778401534 0.00001
NM_030962.4(SBF2):c.3979-20C>A rs1176068872 0.00001
NM_030962.4(SBF2):c.402+5A>G rs1060503800 0.00001
NM_030962.4(SBF2):c.4113G>A (p.Val1371=) rs1195911510 0.00001
NM_030962.4(SBF2):c.4119C>T (p.Phe1373=) rs772473795 0.00001
NM_030962.4(SBF2):c.4156-12C>G rs779854941 0.00001
NM_030962.4(SBF2):c.4156-15C>T rs746693765 0.00001
NM_030962.4(SBF2):c.4156-5C>G rs966658773 0.00001
NM_030962.4(SBF2):c.4266C>T (p.Ser1422=) rs763445946 0.00001
NM_030962.4(SBF2):c.4335G>A (p.Glu1445=) rs1370306059 0.00001
NM_030962.4(SBF2):c.4416C>T (p.Phe1472=) rs1347990916 0.00001
NM_030962.4(SBF2):c.4443+20G>A rs370632930 0.00001
NM_030962.4(SBF2):c.4509C>T (p.His1503=) rs138816399 0.00001
NM_030962.4(SBF2):c.4570+11G>A rs370065558 0.00001
NM_030962.4(SBF2):c.504A>T (p.Gly168=) rs781537575 0.00001
NM_030962.4(SBF2):c.5452-14A>G rs745519807 0.00001
NM_030962.4(SBF2):c.5452-5T>C rs773935983 0.00001
NM_030962.4(SBF2):c.620-9T>C rs199676895 0.00001
NM_030962.4(SBF2):c.72G>T (p.Leu24=) rs1352614927 0.00001
NM_030962.4(SBF2):c.756T>C (p.Tyr252=) rs764753779 0.00001
NM_030962.4(SBF2):c.822T>C (p.Ile274=) rs776897720 0.00001
NM_030962.4(SBF2):c.861+7A>G rs546454057 0.00001
NM_030962.4(SBF2):c.90A>G (p.Arg30=) rs551470384 0.00001
NM_030962.4(SBF2):c.936A>G (p.Pro312=) rs765770300 0.00001
NM_030962.4(SBF2):c.1002A>C (p.Ala334=)
NM_030962.4(SBF2):c.1002A>G (p.Ala334=)
NM_030962.4(SBF2):c.1017T>C (p.Pro339=)
NM_030962.4(SBF2):c.1053+11del rs1238757806
NM_030962.4(SBF2):c.1054-13C>T
NM_030962.4(SBF2):c.1065G>A (p.Val355=) rs2134472414
NM_030962.4(SBF2):c.1107A>G (p.Gly369=)
NM_030962.4(SBF2):c.1167+7T>C
NM_030962.4(SBF2):c.1197C>T (p.Val399=)
NM_030962.4(SBF2):c.1273A>C (p.Arg425=) rs1554976504
NM_030962.4(SBF2):c.1297-10T>C rs1249564766
NM_030962.4(SBF2):c.1297-6T>C rs1554975593
NM_030962.4(SBF2):c.1338T>C (p.Asn446=)
NM_030962.4(SBF2):c.1395+8_1395+11del rs763174480
NM_030962.4(SBF2):c.1396-8T>C
NM_030962.4(SBF2):c.1396-9A>G rs548520529
NM_030962.4(SBF2):c.141+11G>T rs774519680
NM_030962.4(SBF2):c.142-10T>C
NM_030962.4(SBF2):c.142-6A>G rs1241730559
NM_030962.4(SBF2):c.1434A>G (p.Pro478=) rs946519735
NM_030962.4(SBF2):c.1440A>G (p.Pro480=)
NM_030962.4(SBF2):c.1443A>G (p.Thr481=)
NM_030962.4(SBF2):c.1449A>C (p.Gly483=)
NM_030962.4(SBF2):c.1459C>A (p.Arg487=) rs120074139
NM_030962.4(SBF2):c.1491T>C (p.Asn497=) rs767806871
NM_030962.4(SBF2):c.1498C>A (p.Arg500=)
NM_030962.4(SBF2):c.1515A>T (p.Ile505=)
NM_030962.4(SBF2):c.1527T>A (p.Val509=)
NM_030962.4(SBF2):c.1536C>T (p.Asn512=)
NM_030962.4(SBF2):c.156C>A (p.Gly52=)
NM_030962.4(SBF2):c.156C>T (p.Gly52=) rs779676883
NM_030962.4(SBF2):c.1578T>G (p.Val526=)
NM_030962.4(SBF2):c.1600+17_1600+20del
NM_030962.4(SBF2):c.1601-13A>G
NM_030962.4(SBF2):c.1601-8T>G
NM_030962.4(SBF2):c.1601-8_1601-6del rs2134369709
NM_030962.4(SBF2):c.1626A>G (p.Thr542=)
NM_030962.4(SBF2):c.1710+15_1710+28del rs2134369196
NM_030962.4(SBF2):c.1711-15C>G
NM_030962.4(SBF2):c.1711-8G>T rs1590619062
NM_030962.4(SBF2):c.1722T>A (p.Ala574=)
NM_030962.4(SBF2):c.1818A>G (p.Gln606=)
NM_030962.4(SBF2):c.1860+10A>G rs778305149
NM_030962.4(SBF2):c.1860+15T>C
NM_030962.4(SBF2):c.246C>T (p.Cys82=)
NM_030962.4(SBF2):c.279+15A>G
NM_030962.4(SBF2):c.279+17T>C
NM_030962.4(SBF2):c.280-17A>C rs777674707
NM_030962.4(SBF2):c.280-17A>G
NM_030962.4(SBF2):c.3456-12A>G
NM_030962.4(SBF2):c.3456-12_3456-11del
NM_030962.4(SBF2):c.3456-18T>C
NM_030962.4(SBF2):c.3456-19C>T
NM_030962.4(SBF2):c.3483A>G (p.Gln1161=)
NM_030962.4(SBF2):c.3501T>C (p.Ser1167=)
NM_030962.4(SBF2):c.3507A>G (p.Pro1169=)
NM_030962.4(SBF2):c.3522C>T (p.Cys1174=)
NM_030962.4(SBF2):c.3540G>A (p.Leu1180=)
NM_030962.4(SBF2):c.3576T>G (p.Thr1192=) rs779580044
NM_030962.4(SBF2):c.3579G>C (p.Leu1193=) rs2133937125
NM_030962.4(SBF2):c.3609G>A (p.Lys1203=)
NM_030962.4(SBF2):c.3618T>C (p.Val1206=) rs1855446145
NM_030962.4(SBF2):c.3642C>T (p.Ser1214=) rs2133937017
NM_030962.4(SBF2):c.3652+13C>G
NM_030962.4(SBF2):c.3653-15A>G
NM_030962.4(SBF2):c.3653-19A>C rs1855259655
NM_030962.4(SBF2):c.3720T>C (p.Asn1240=)
NM_030962.4(SBF2):c.3759T>G (p.Thr1253=)
NM_030962.4(SBF2):c.3777C>A (p.Ala1259=)
NM_030962.4(SBF2):c.3777C>G (p.Ala1259=)
NM_030962.4(SBF2):c.3784C>T (p.Leu1262=) rs1270676073
NM_030962.4(SBF2):c.3793+10G>A
NM_030962.4(SBF2):c.3793+14A>G rs2133931561
NM_030962.4(SBF2):c.3793+14_3793+16del rs773684325
NM_030962.4(SBF2):c.3793+17C>A rs755950037
NM_030962.4(SBF2):c.3793+17C>T
NM_030962.4(SBF2):c.3794-11C>T
NM_030962.4(SBF2):c.379T>C (p.Leu127=)
NM_030962.4(SBF2):c.3804A>C (p.Ala1268=)
NM_030962.4(SBF2):c.3837T>G (p.Ser1279=) rs1554909254
NM_030962.4(SBF2):c.3840A>G (p.Pro1280=)
NM_030962.4(SBF2):c.387T>C (p.Tyr129=) rs1590797444
NM_030962.4(SBF2):c.3888G>A (p.Ser1296=) rs375669985
NM_030962.4(SBF2):c.3945C>G (p.Ala1315=)
NM_030962.4(SBF2):c.3969G>T (p.Ser1323=) rs77833016
NM_030962.4(SBF2):c.3975A>G (p.Leu1325=)
NM_030962.4(SBF2):c.3979-4G>A rs375742620
NM_030962.4(SBF2):c.3979-5C>T
NM_030962.4(SBF2):c.3979-9C>T
NM_030962.4(SBF2):c.402+12_402+13insAAAAAATG
NM_030962.4(SBF2):c.402+14A>G
NM_030962.4(SBF2):c.402+15G>C
NM_030962.4(SBF2):c.402+16T>C
NM_030962.4(SBF2):c.403-11T>C
NM_030962.4(SBF2):c.403-12A>T
NM_030962.4(SBF2):c.403-13T>C
NM_030962.4(SBF2):c.403-4G>C
NM_030962.4(SBF2):c.405T>C (p.Ala135=)
NM_030962.4(SBF2):c.4074G>A (p.Arg1358=)
NM_030962.4(SBF2):c.411G>T (p.Leu137=) rs1949191944
NM_030962.4(SBF2):c.4137T>C (p.Asp1379=)
NM_030962.4(SBF2):c.4155+16G>C
NM_030962.4(SBF2):c.4155+7T>C
NM_030962.4(SBF2):c.4156-4T>C
NM_030962.4(SBF2):c.4156-7C>G rs2133898233
NM_030962.4(SBF2):c.4156-9G>A rs2133898236
NM_030962.4(SBF2):c.4161C>T (p.His1387=)
NM_030962.4(SBF2):c.4162A>C (p.Arg1388=) rs1854010179
NM_030962.4(SBF2):c.417G>A (p.Leu139=)
NM_030962.4(SBF2):c.4209T>C (p.Gly1403=)
NM_030962.4(SBF2):c.420C>A (p.Ile140=)
NM_030962.4(SBF2):c.4257+14C>T rs771419758
NM_030962.4(SBF2):c.4257+17del
NM_030962.4(SBF2):c.4257+20T>C
NM_030962.4(SBF2):c.4258-18A>T
NM_030962.4(SBF2):c.4258-20C>G rs1324228041
NM_030962.4(SBF2):c.4260G>T (p.Val1420=)
NM_030962.4(SBF2):c.426C>T (p.Thr142=)
NM_030962.4(SBF2):c.4347T>C (p.Phe1449=)
NM_030962.4(SBF2):c.4368G>A (p.Arg1456=)
NM_030962.4(SBF2):c.4395G>A (p.Gly1465=)
NM_030962.4(SBF2):c.4443+13A>T
NM_030962.4(SBF2):c.4443+14G>T
NM_030962.4(SBF2):c.4443+18G>C
NM_030962.4(SBF2):c.4443+19A>T
NM_030962.4(SBF2):c.4491A>G (p.Leu1497=)
NM_030962.4(SBF2):c.4539C>T (p.Leu1513=) rs756073763
NM_030962.4(SBF2):c.4570+13A>T rs945495130
NM_030962.4(SBF2):c.4570+14T>C
NM_030962.4(SBF2):c.4570+19T>C
NM_030962.4(SBF2):c.4570+20T>C
NM_030962.4(SBF2):c.463C>T (p.Leu155=)
NM_030962.4(SBF2):c.498G>A (p.Ala166=)
NM_030962.4(SBF2):c.513+10A>G
NM_030962.4(SBF2):c.514-12C>A rs770141264
NM_030962.4(SBF2):c.514-9A>G rs906365170
NM_030962.4(SBF2):c.525T>C (p.Ser175=) rs2134627335
NM_030962.4(SBF2):c.5452-13T>C
NM_030962.4(SBF2):c.5452-16T>C
NM_030962.4(SBF2):c.5472G>A (p.Val1824=) rs1353568885
NM_030962.4(SBF2):c.5472G>C (p.Val1824=) rs1353568885
NM_030962.4(SBF2):c.5547C>A (p.Ala1849=)
NM_030962.4(SBF2):c.564A>G (p.Leu188=)
NM_030962.4(SBF2):c.600T>G (p.Ala200=) rs770433606
NM_030962.4(SBF2):c.612G>A (p.Gln204=) rs1554990046
NM_030962.4(SBF2):c.615A>G (p.Gln205=)
NM_030962.4(SBF2):c.616T>C (p.Leu206=) rs1590791206
NM_030962.4(SBF2):c.619+18T>C
NM_030962.4(SBF2):c.636C>T (p.Leu212=)
NM_030962.4(SBF2):c.651A>C (p.Ala217=) rs200293270
NM_030962.4(SBF2):c.675C>G (p.Leu225=) rs2134514191
NM_030962.4(SBF2):c.699A>G (p.Arg233=)
NM_030962.4(SBF2):c.752+12A>G
NM_030962.4(SBF2):c.753-10T>C rs2134507238
NM_030962.4(SBF2):c.753-16T>C rs7128234
NM_030962.4(SBF2):c.753-18T>C
NM_030962.4(SBF2):c.753-4C>G
NM_030962.4(SBF2):c.75G>A (p.Gly25=) rs1279874044
NM_030962.4(SBF2):c.804C>T (p.Ser268=) rs763567646
NM_030962.4(SBF2):c.810G>T (p.Thr270=) rs769963369
NM_030962.4(SBF2):c.819T>C (p.Ile273=) rs1947929110
NM_030962.4(SBF2):c.861+9T>G rs1947927028
NM_030962.4(SBF2):c.862-12T>A
NM_030962.4(SBF2):c.862-15T>C
NM_030962.4(SBF2):c.873C>T (p.Ile291=) rs2134496815
NM_030962.4(SBF2):c.933C>A (p.Leu311=)
NM_030962.4(SBF2):c.948A>C (p.Leu316=) rs772340409
NM_030962.4(SBF2):c.975+10A>G
NM_030962.4(SBF2):c.975+8A>G rs371861993
NM_030962.4(SBF2):c.981A>G (p.Leu327=)

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