List of variants in gene DNA2 reported as pathogenic for Mitochondrial DNA deletion syndrome with progressive myopathy

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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: 5

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HGVS	dbSNP	gnomAD frequency
NM_001080449.3(DNA2):c.1909G>A (p.Val637Ile)	rs746522359	0.00006
NM_001080449.3(DNA2):c.593G>A (p.Arg198His)	rs1272393477	0.00001
NM_001080449.3(DNA2):c.679A>G (p.Lys227Glu)	rs760412883	0.00001
NM_001080449.3(DNA2):c.1644_1647del (p.Asp548fs)	rs768077989
NM_001080449.3(DNA2):c.1919C>T (p.Ser640Leu)	rs1590054876

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