ClinVar Miner

List of variants in gene RRM2B reported as likely pathogenic for mitochondrial DNA depletion syndrome

Included ClinVar conditions (58):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015713.5(RRM2B):c.846G>C (p.Met282Ile) rs182614164 0.00005
NM_015713.5(RRM2B):c.671T>G (p.Ile224Ser) rs515726196 0.00003
NM_015713.5(RRM2B):c.118C>T (p.Arg40Cys) rs776184830 0.00002
NM_015713.5(RRM2B):c.204+5G>A rs372991229 0.00001
NM_015713.5(RRM2B):c.253_255del (p.Glu85del) rs515726184 0.00001
NM_015713.5(RRM2B):c.328C>T (p.Arg110Cys) rs515726186 0.00001
NM_015713.5(RRM2B):c.431C>T (p.Thr144Ile) rs515726189 0.00001
NM_015713.5(RRM2B):c.1027A>G (p.Asn343Asp)
NM_015713.5(RRM2B):c.121C>T (p.Arg41Trp) rs515726181
NM_015713.5(RRM2B):c.122G>C (p.Arg41Pro) rs200273673
NM_015713.5(RRM2B):c.128T>A (p.Val43Asp) rs1587186073
NM_015713.5(RRM2B):c.168T>A (p.Tyr56Ter)
NM_015713.5(RRM2B):c.184del (p.Ser62fs)
NM_015713.5(RRM2B):c.455+1G>A rs2132555188
NM_015713.5(RRM2B):c.472G>A (p.Ala158Thr)
NM_015713.5(RRM2B):c.48+268_48+269delinsAA rs1811166166
NM_015713.5(RRM2B):c.49-2A>G
NM_015713.5(RRM2B):c.520C>T (p.Arg174Ter) rs863224191
NM_015713.5(RRM2B):c.540del (p.Lys180fs)
NM_015713.5(RRM2B):c.635_636insAAG (p.Gly212_Leu213insSer) rs863224914
NM_015713.5(RRM2B):c.662A>G (p.Asn221Ser) rs863224193
NM_015713.5(RRM2B):c.94G>T (p.Glu32Ter)
NM_015713.5(RRM2B):c.969_972del (p.Phe323fs)

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.