List of variants in gene RRM2B reported as likely pathogenic for hereditary skeletal muscle disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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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.671T>G (p.Ile224Ser)	rs515726196	0.00003
NM_015713.5(RRM2B):c.253_255del (p.Glu85del)	rs515726184	0.00001
NM_015713.5(RRM2B):c.431C>T (p.Thr144Ile)	rs515726189	0.00001
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.168T>A (p.Tyr56Ter)
NM_015713.5(RRM2B):c.455+1G>A	rs2132555188
NM_015713.5(RRM2B):c.520C>T (p.Arg174Ter)	rs863224191

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