List of variants in gene combination LOC130000896, RRM2B reported as likely pathogenic for mitochondrial DNA depletion syndrome

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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: 3

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HGVS	dbSNP	gnomAD frequency
NM_015713.5(RRM2B):c.48G>A (p.Glu16=)	rs515726180	0.00002
NM_015713.5(RRM2B):c.1A>G (p.Met1Val)	rs772913758
NM_015713.5(RRM2B):c.40C>T (p.Gln14Ter)

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