ClinVar Miner

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

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Total variants: 5
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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.1444C>T (p.Arg482Trp) rs398123061 0.00003
NM_001278716.2(FBXL4):c.1241T>C (p.Leu414Pro)
NM_001278716.2(FBXL4):c.1544G>A (p.Cys515Tyr)
NM_001278716.2(FBXL4):c.486T>A (p.Tyr162Ter) rs1562245046

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