ClinVar Miner

List of variants studied for Mitochondrial DNA depletion syndrome 13 by 3billion

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Total variants: 3
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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.1440dup (p.Leu481fs) rs879255542
NM_001278716.2(FBXL4):c.1703G>C (p.Gly568Ala) rs398123060

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