ClinVar Miner

List of variants in gene FIG4 reported as likely benign for Charcot-Marie-Tooth disease

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
Download table as spreadsheet
HGVS dbSNP
NM_014845.5(FIG4):c.*14C>T rs114136062
NM_014845.5(FIG4):c.1090A>T (p.Met364Leu) rs2295837
NM_014845.5(FIG4):c.1271+5A>G rs374583399
NM_014845.5(FIG4):c.1272-10C>G rs201293291
NM_014845.5(FIG4):c.1305G>C (p.Val435=) rs145227623
NM_014845.5(FIG4):c.1584-8T>A rs199522051
NM_014845.5(FIG4):c.1809G>A (p.Gly603=) rs148280593
NM_014845.5(FIG4):c.1863C>A (p.Thr621=) rs201744761
NM_014845.5(FIG4):c.1949-15C>T rs778444771
NM_014845.5(FIG4):c.2097-10C>G rs142482745
NM_014845.5(FIG4):c.2154A>G (p.Pro718=) rs201138266
NM_014845.5(FIG4):c.2459+7T>G rs575271308
NM_014845.5(FIG4):c.2547-5T>G rs200267243
NM_014845.5(FIG4):c.300G>A (p.Arg100=) rs368831195
NM_014845.5(FIG4):c.33G>C (p.Ser11=) rs527523781
NM_014845.5(FIG4):c.446+9G>A rs190287033
NM_014845.5(FIG4):c.66+10C>T rs200063827
NM_014845.5(FIG4):c.808A>G (p.Thr270Ala) rs61729092
NM_014845.5(FIG4):c.918C>T (p.Cys306=) rs369159531
NM_014845.6(FIG4):c.105A>G (p.Lys35=)
NM_014845.6(FIG4):c.1272-10C>T rs201293291
NM_014845.6(FIG4):c.1341T>C (p.Phe447=)
NM_014845.6(FIG4):c.1356T>C (p.Asp452=)
NM_014845.6(FIG4):c.1536G>T (p.Leu512=)
NM_014845.6(FIG4):c.1750+11A>C
NM_014845.6(FIG4):c.2097-10C>T rs142482745
NM_014845.6(FIG4):c.2180+20C>T
NM_014845.6(FIG4):c.2241G>A (p.Pro747=) rs148589135
NM_014845.6(FIG4):c.2319T>C (p.Ser773=)
NM_014845.6(FIG4):c.2377-18T>C
NM_014845.6(FIG4):c.2377-20_2377-19insCT
NM_014845.6(FIG4):c.252G>A (p.Ser84=)
NM_014845.6(FIG4):c.289+17C>T
NM_014845.6(FIG4):c.42G>A (p.Lys14=) rs552856153
NM_014845.6(FIG4):c.447-16delinsTT
NM_014845.6(FIG4):c.66+18G>A
NM_014845.6(FIG4):c.744G>A (p.Leu248=)

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.