ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 94
Download table as spreadsheet
HGVS dbSNP
NM_030962.3(SBF2):c.1015C>G (p.Pro339Ala)
NM_030962.3(SBF2):c.1045A>G (p.Lys349Glu) rs746685729
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.1124A>G (p.Gln375Arg) rs770153492
NM_030962.3(SBF2):c.1173A>G (p.Ala391=) rs79470805
NM_030962.3(SBF2):c.1244G>T (p.Gly415Val)
NM_030962.3(SBF2):c.1297-13T>C
NM_030962.3(SBF2):c.1368G>A (p.Arg456=)
NM_030962.3(SBF2):c.1395+1G>A
NM_030962.3(SBF2):c.142-22dup
NM_030962.3(SBF2):c.1424A>G (p.Gln475Arg) rs199894823
NM_030962.3(SBF2):c.1459C>T (p.Arg487Ter) rs120074139
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.1601-20T>C
NM_030962.3(SBF2):c.1623G>A (p.Thr541=) rs184849947
NM_030962.3(SBF2):c.1632C>A (p.Phe544Leu)
NM_030962.3(SBF2):c.1711-9T>C
NM_030962.3(SBF2):c.1812C>T (p.Asp604=) rs765658939
NM_030962.3(SBF2):c.1854T>G (p.Thr618=) rs1224103000
NM_030962.3(SBF2):c.190A>G (p.Thr64Ala) rs374114606
NM_030962.3(SBF2):c.266A>C (p.Glu89Ala)
NM_030962.3(SBF2):c.280-5T>C rs368118378
NM_030962.3(SBF2):c.3456-22_3456-18del
NM_030962.3(SBF2):c.3518G>A (p.Arg1173His)
NM_030962.3(SBF2):c.3646C>G (p.Gln1216Glu) rs12574508
NM_030962.3(SBF2):c.3668T>C (p.Leu1223Ser)
NM_030962.3(SBF2):c.3794-20C>T rs116966215
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.3843A>G (p.Thr1281=) rs147597665
NM_030962.3(SBF2):c.3866G>A (p.Arg1289Gln) rs757836523
NM_030962.3(SBF2):c.3887C>T (p.Ser1296Leu) rs767811228
NM_030962.3(SBF2):c.3969G>A (p.Ser1323=) rs77833016
NM_030962.3(SBF2):c.403-15T>G rs887143579
NM_030962.3(SBF2):c.4096C>T (p.Pro1366Ser) rs115927577
NM_030962.3(SBF2):c.4101T>G (p.Thr1367=)
NM_030962.3(SBF2):c.4111G>C (p.Val1371Leu) rs149501654
NM_030962.3(SBF2):c.4290C>T (p.Pro1430=)
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.4384A>T (p.Asn1462Tyr)
NM_030962.3(SBF2):c.4443+1G>C rs1564872328
NM_030962.3(SBF2):c.4459C>T (p.Pro1487Ser) rs1590103742
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.4539C>T (p.Leu1513=)
NM_030962.3(SBF2):c.4571-6C>T rs2645029
NM_030962.3(SBF2):c.4635T>A (p.Ile1545=)
NM_030962.3(SBF2):c.4687T>C (p.Leu1563=) rs563878786
NM_030962.3(SBF2):c.4712A>G (p.Asn1571Ser) rs371960255
NM_030962.3(SBF2):c.4758G>A (p.Glu1586=)
NM_030962.3(SBF2):c.4782T>G (p.Tyr1594Ter) rs1384571991
NM_030962.3(SBF2):c.4805A>G (p.Lys1602Arg) rs147772705
NM_030962.3(SBF2):c.4809C>T (p.His1603=) rs199670153
NM_030962.3(SBF2):c.4933-15T>C rs75447733
NM_030962.3(SBF2):c.4981C>G (p.Gln1661Glu)
NM_030962.3(SBF2):c.5007G>A (p.Val1669=) rs918725972
NM_030962.3(SBF2):c.5037C>T (p.Arg1679=) rs200784979
NM_030962.3(SBF2):c.5038-9C>G
NM_030962.3(SBF2):c.5043A>G (p.Gln1681=)
NM_030962.3(SBF2):c.5058A>T (p.Arg1686Ser) rs146230559
NM_030962.3(SBF2):c.513+17G>C rs73410819
NM_030962.3(SBF2):c.513+18A>T rs201201683
NM_030962.3(SBF2):c.5231+14C>T rs371184526
NM_030962.3(SBF2):c.5277T>G (p.Gly1759=)
NM_030962.3(SBF2):c.5410A>G (p.Met1804Val) rs755264093
NM_030962.3(SBF2):c.5451+8G>C
NM_030962.3(SBF2):c.5452-3T>C
NM_030962.3(SBF2):c.5483G>A (p.Cys1828Tyr) rs146064484
NM_030962.3(SBF2):c.5526C>A (p.Ile1842=) rs376788960
NM_030962.3(SBF2):c.703A>G (p.Ser235Gly)
NM_030962.3(SBF2):c.705T>C (p.Ser235=) rs143209062
NM_030962.3(SBF2):c.753-16T>A rs7128234
NM_030962.3(SBF2):c.753-16T>C rs7128234
NM_030962.3(SBF2):c.777G>A (p.Pro259=) rs142261202
NM_030962.3(SBF2):c.78A>G (p.Lys26=)
NM_030962.3(SBF2):c.808A>G (p.Thr270Ala)
NM_030962.3(SBF2):c.861+5G>C rs879253963
NM_030962.3(SBF2):c.861+9T>A
NM_030962.3(SBF2):c.862-2A>G rs1590716243
NM_030962.3(SBF2):c.87G>C (p.Gln29His) rs751336040
NM_030962.3(SBF2):c.909C>T (p.Pro303=) rs16907355
NM_030962.3(SBF2):c.913T>C (p.Cys305Arg)
NM_030962.3(SBF2):c.93T>C (p.Phe31=) rs200263159
NM_030962.3(SBF2):c.946C>T (p.Leu316=) rs374841593
NM_030962.3(SBF2):c.948A>C (p.Leu316=)
NM_030962.4(SBF2):c.5017GAA[1] (p.Glu1674del) rs572571832

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.