List of variants in gene RRM2B reported as uncertain significance for Mitochondrial DNA depletion syndrome 8a; Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
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.755G>A (p.Arg252Lys)	rs754931572	0.00003
NM_015713.5(RRM2B):c.119G>A (p.Arg40His)	rs765953819	0.00001
NM_015713.5(RRM2B):c.470A>G (p.Asn157Ser)	rs751231428	0.00001
NM_015713.5(RRM2B):c.*74del	rs886062569
NM_015713.5(RRM2B):c.143A>G (p.Gln48Arg)	rs747846279
NM_015713.5(RRM2B):c.258G>T (p.Lys86Asn)	rs536874925
NM_015713.5(RRM2B):c.48+188del	rs758091261

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