ClinVar Miner

List of variants in gene RHBDF2 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001005498.4(RHBDF2):c.1812G>A (p.Val604=) rs138683747 0.00390
NM_001005498.4(RHBDF2):c.1396C>T (p.Arg466Trp) rs143503813 0.00278
NM_001005498.4(RHBDF2):c.2265C>T (p.Ala755=) rs115094923 0.00277
NM_001005498.4(RHBDF2):c.995C>T (p.Ala332Val) rs144193184 0.00229
NM_001005498.4(RHBDF2):c.314G>A (p.Gly105Glu) rs142642633 0.00016
NM_001005498.4(RHBDF2):c.335G>A (p.Arg112His) rs546484250 0.00004
NM_001005498.4(RHBDF2):c.1346G>A (p.Arg449Gln)
NM_001005498.4(RHBDF2):c.380C>T (p.Ala127Val)
NM_001005498.4(RHBDF2):c.754G>A (p.Asp252Asn)

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.