ClinVar Miner

List of variants in gene combination LOC101928008, SBF2 reported as uncertain significance for Charcot-Marie-Tooth disease

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_030962.4(SBF2):c.3290C>A (p.Thr1097Asn) rs141894081 0.00064
NM_030962.4(SBF2):c.1967G>C (p.Cys656Ser) rs138120231 0.00019
NM_030962.4(SBF2):c.3127A>G (p.Ile1043Val) rs147438385 0.00017
NM_030962.4(SBF2):c.3109C>T (p.Arg1037Cys) rs770723203 0.00002
NM_030962.4(SBF2):c.3316A>G (p.Met1106Val) rs753427715 0.00001
NM_030962.4(SBF2):c.3386G>C (p.Ser1129Thr) rs187674701 0.00001
NM_030962.4(SBF2):c.3383G>A (p.Gly1128Asp) rs1855965122

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.