ClinVar Miner

List of variants in gene RRM2B reported by GeneReviews

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Gene type:
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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_015713.5(RRM2B):c.846G>C (p.Met282Ile) rs182614164 0.00005
NM_015713.5(RRM2B):c.329G>A (p.Arg110His) rs267607025 0.00003
NM_015713.5(RRM2B):c.671T>G (p.Ile224Ser) rs515726196 0.00003
NM_015713.5(RRM2B):c.817G>A (p.Gly273Ser) rs387906891 0.00003
NM_015713.5(RRM2B):c.686G>T (p.Gly229Val) rs121918311 0.00002
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.362G>A (p.Arg121His) rs267607024 0.00001
NM_015713.5(RRM2B):c.391G>A (p.Glu131Lys) rs515726188 0.00001
NM_015713.5(RRM2B):c.431C>T (p.Thr144Ile) rs515726189 0.00001
NM_015713.5(RRM2B):c.556A>G (p.Arg186Gly) rs515726190 0.00001
NM_015713.5(RRM2B):c.632G>A (p.Arg211Lys) rs515726195 0.00001
NM_015713.5(RRM2B):c.97C>T (p.Pro33Ser) rs387906892 0.00001
NM_015713.5(RRM2B):c.1046C>G (p.Ala349Gly) rs515726202
NM_015713.5(RRM2B):c.121C>T (p.Arg41Trp) rs515726181
NM_015713.5(RRM2B):c.122G>A (p.Arg41Gln) rs200273673
NM_015713.5(RRM2B):c.122G>C (p.Arg41Pro) rs200273673
NM_015713.5(RRM2B):c.190T>C (p.Trp64Arg) rs515726182
NM_015713.5(RRM2B):c.208G>A (p.Asp70Asn) rs515726183
NM_015713.5(RRM2B):c.368T>C (p.Phe123Ser) rs515726187
NM_015713.5(RRM2B):c.580G>A (p.Glu194Lys) rs121918308
NM_015713.5(RRM2B):c.581A>G (p.Glu194Gly) rs515726191
NM_015713.5(RRM2B):c.583G>A (p.Gly195Arg) rs515726192
NM_015713.5(RRM2B):c.584del (p.Gly195fs) rs515726193
NM_015713.5(RRM2B):c.606T>A (p.Phe202Leu) rs515726194
NM_015713.5(RRM2B):c.707G>T (p.Cys236Phe) rs121918309
NM_015713.5(RRM2B):c.850C>T (p.Gln284Ter) rs121918307
NM_015713.5(RRM2B):c.920del (p.Asn307fs) rs515726197
NM_015713.5(RRM2B):c.949T>G (p.Leu317Val) rs515726198
NM_015713.5(RRM2B):c.950del (p.Ser316_Leu317insTer) rs515726199
NM_015713.5(RRM2B):c.952G>T (p.Glu318Ter) rs515726200
NM_015713.5(RRM2B):c.965dup (p.Asn322fs) rs515726201
NM_015713.5(RRM2B):c.979C>T (p.Arg327Ter) rs121918310

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