ClinVar Miner

List of variants reported as pathogenic for Mitochondrial DNA depletion syndrome 13 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001278716.2(FBXL4):c.1303C>T (p.Arg435Ter)	rs201889294	0.00004
NM_001278716.2(FBXL4):c.486T>A (p.Tyr162Ter)	rs1562245046

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