ClinVar Miner

List of variants in gene RRM2B studied for Mitochondrial DNA depletion syndrome 8a; Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015713.5(RRM2B):c.48+273G>T rs149523343 0.00928
NM_015713.5(RRM2B):c.48+265C>G rs550765773 0.00178
NM_015713.5(RRM2B):c.48+48C>T rs201028777 0.00142
NM_015713.5(RRM2B):c.685-20A>T rs142382577 0.00104
NM_015713.5(RRM2B):c.551-18C>T rs72554100 0.00062
NM_015713.5(RRM2B):c.790-8C>A rs376542259 0.00014
NM_015713.5(RRM2B):c.48+156G>A rs773501860 0.00005
NM_015713.5(RRM2B):c.613A>G (p.Ile205Val) rs144088421 0.00004
NM_015713.5(RRM2B):c.671T>G (p.Ile224Ser) rs515726196 0.00003
NM_015713.5(RRM2B):c.755G>A (p.Arg252Lys) rs754931572 0.00003
NM_015713.5(RRM2B):c.119G>A (p.Arg40His) rs765953819 0.00001
NM_015713.5(RRM2B):c.253_255del (p.Glu85del) rs515726184 0.00001
NM_015713.5(RRM2B):c.322-7T>C rs570137520 0.00001
NM_015713.5(RRM2B):c.470A>G (p.Asn157Ser) rs751231428 0.00001
NM_015713.5(RRM2B):c.*74del rs886062569
NM_015713.5(RRM2B):c.143A>G (p.Gln48Arg) rs747846279
NM_015713.5(RRM2B):c.258G>T (p.Lys86Asn) rs536874925
NM_015713.5(RRM2B):c.455+1G>A rs2132555188
NM_015713.5(RRM2B):c.48+188del rs758091261
NM_015713.5(RRM2B):c.534T>C (p.Asp178=) rs1810881397

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.