ClinVar Miner

List of variants in gene RRM2B reported as uncertain significance by GeneDx

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_015713.5(RRM2B):c.48+180G>A rs555123175 0.00124
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.482C>T (p.Thr161Ile) rs72554098 0.00003
NM_015713.5(RRM2B):c.817G>A (p.Gly273Ser) rs387906891 0.00003
NM_015713.5(RRM2B):c.48+213C>T rs1064796952 0.00002
NM_015713.5(RRM2B):c.119G>A (p.Arg40His) rs765953819 0.00001
NM_015713.5(RRM2B):c.208G>A (p.Asp70Asn) rs515726183 0.00001
NM_015713.5(RRM2B):c.391G>A (p.Glu131Lys) rs515726188 0.00001
NM_015713.5(RRM2B):c.416G>C (p.Ser139Thr) rs780298008 0.00001
NM_015713.5(RRM2B):c.475A>G (p.Ile159Val) rs863224190 0.00001
NM_015713.5(RRM2B):c.632G>A (p.Arg211Lys) rs515726195 0.00001
NM_015713.5(RRM2B):c.1010T>C (p.Met337Thr)
NM_015713.5(RRM2B):c.143A>G (p.Gln48Arg) rs747846279
NM_015713.5(RRM2B):c.175G>C (p.Ala59Pro) rs2488868755
NM_015713.5(RRM2B):c.181G>T (p.Ala61Ser) rs2132562433
NM_015713.5(RRM2B):c.258G>T (p.Lys86Asn) rs536874925
NM_015713.5(RRM2B):c.281C>T (p.Ala94Val) rs759369330
NM_015713.5(RRM2B):c.368T>C (p.Phe123Ser) rs515726187
NM_015713.5(RRM2B):c.371A>G (p.Tyr124Cys) rs1211197364
NM_015713.5(RRM2B):c.397G>C (p.Val133Leu)
NM_015713.5(RRM2B):c.408G>C (p.Glu136Asp) rs2132555261
NM_015713.5(RRM2B):c.48+108_48+111dup rs770767426
NM_015713.5(RRM2B):c.48+148C>A
NM_015713.5(RRM2B):c.48+188del rs758091261
NM_015713.5(RRM2B):c.551-11_551-10del rs771845744
NM_015713.5(RRM2B):c.551-2A>T rs773635687
NM_015713.5(RRM2B):c.574G>A (p.Ala192Thr) rs779724753
NM_015713.5(RRM2B):c.601T>C (p.Ser201Pro) rs2488852844
NM_015713.5(RRM2B):c.684+4del rs1810776593
NM_015713.5(RRM2B):c.773C>T (p.Ala258Val) rs1810682702
NM_015713.5(RRM2B):c.853T>G (p.Tyr285Asp)

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