ClinVar Miner

List of variants studied for Mitochondrial DNA depletion syndrome 13 by Mendelics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001278716.2(FBXL4):c.1288C>T (p.Arg430Ter) rs758395213 0.00003
NM_001278716.2(FBXL4):c.419T>C (p.Val140Ala) rs1057519447 0.00001
NM_001278716.2(FBXL4):c.1673G>A (p.Cys558Tyr) rs995995791
NM_001278716.2(FBXL4):c.622G>T (p.Glu208Ter) rs1582425406

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