ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 4 by Genomic Research Center,Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP
NM_000399.5(EGR2):c.1084C>T (p.Arg362Ter) rs1554853028
NM_001304481.1(FGD4):c.8del (p.Gly3fs) rs1357153004
NM_002972.4(SBF1):c.1448C>G (p.Ala483Gly) rs1556430522
NM_002972.4(SBF1):c.1918G>C (p.Glu640Gln)
NM_002972.4(SBF1):c.4378T>G (p.Leu1460Val) rs1404020990
NM_003172.4(SURF1):c.808_814dup (p.Leu272fs) rs1554768224
NM_014845.5(FIG4):c.290-2A>G
NM_014845.5(FIG4):c.834A>T (p.Lys278Asn) rs138048706
NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter) rs745663149
NM_030962.3(SBF2):c.3935G>A (p.Arg1312Gln)
NM_030962.3(SBF2):c.5014_5016del (p.Lys1672del) rs750958357
NM_033500.2(HK1):c.-138G>A
NM_139241.3(FGD4):c.956G>A (p.Arg319His)
NM_181882.2(PRX):c.1483_1560del (p.469_494ELPKVSEMKLPKVPEMAVPEVRLPEV[1]) rs1555801137
NM_181882.2(PRX):c.4318G>A (p.Val1440Met) rs138437458
NM_181882.2(PRX):c.979del (p.Asp327fs) rs1568708792

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.