ClinVar Miner

List of variants in gene SBF1 studied for Charcot-Marie-Tooth disease type 4B3

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
Download table as spreadsheet
HGVS dbSNP
NM_002972.4(SBF1):c.1069A>G (p.Thr357Ala) rs746439204
NM_002972.4(SBF1):c.1249A>G (p.Met417Val) rs587776986
NM_002972.4(SBF1):c.1327G>A (p.Asp443Asn) rs690016543
NM_002972.4(SBF1):c.1448C>G (p.Ala483Gly) rs1556430522
NM_002972.4(SBF1):c.1918G>C (p.Glu640Gln) rs199783239
NM_002972.4(SBF1):c.1947T>A (p.Pro649=) rs180800708
NM_002972.4(SBF1):c.2127+4C>T rs151027707
NM_002972.4(SBF1):c.219C>T (p.Ile73=) rs750211528
NM_002972.4(SBF1):c.2255C>T (p.Thr752Met) rs188976869
NM_002972.4(SBF1):c.2393A>G (p.Asn798Ser) rs199705951
NM_002972.4(SBF1):c.2605G>A (p.Val869Met) rs200365973
NM_002972.4(SBF1):c.2785G>A (p.Val929Ile) rs370463792
NM_002972.4(SBF1):c.3157C>T (p.Arg1053Trp) rs202156491
NM_002972.4(SBF1):c.3339C>T (p.Ser1113=) rs149160974
NM_002972.4(SBF1):c.3666G>A (p.Lys1222=) rs373529561
NM_002972.4(SBF1):c.3826+1G>A rs1009209509
NM_002972.4(SBF1):c.3904+5C>G rs115032856
NM_002972.4(SBF1):c.3905-9C>T rs574807761
NM_002972.4(SBF1):c.3940A>G (p.Ser1314Gly) rs200718883
NM_002972.4(SBF1):c.4020C>T (p.Pro1340=) rs79468232
NM_002972.4(SBF1):c.4378T>G (p.Leu1460Val) rs1404020990
NM_002972.4(SBF1):c.4639C>T (p.Arg1547Trp) rs370182117
NM_002972.4(SBF1):c.4768A>G (p.Thr1590Ala) rs200488568
NM_002972.4(SBF1):c.4813-18C>T rs41281541
NM_002972.4(SBF1):c.5022C>T (p.Asp1674=) rs570393243
NM_002972.4(SBF1):c.5471G>A (p.Arg1824His) rs202149945
NM_002972.4(SBF1):c.5507C>G (p.Ala1836Gly) rs373534319
NM_002972.4(SBF1):c.5604T>C (p.Val1868=) rs141053122
NM_002972.4(SBF1):c.5625C>T (p.Asp1875=) rs146489206
NM_002972.4(SBF1):c.898-4G>A rs377428323

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.