ClinVar Miner

List of variants studied for Mitochondrial DNA depletion syndrome 13 by Baylor Genetics

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001278716.2(FBXL4):c.737T>C (p.Ile246Thr) rs143154211 0.00076
NM_001278716.2(FBXL4):c.131C>A (p.Thr44Asn) rs199983343 0.00022
NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter) rs200440128 0.00005
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp) rs398123061 0.00003
NM_001278716.2(FBXL4):c.1790A>C (p.Gln597Pro) rs201989042 0.00001
NM_001278716.2(FBXL4):c.292C>T (p.Arg98Ter) rs1554222130 0.00001
NM_001278716.2(FBXL4):c.539C>T (p.Pro180Leu) rs1015958378 0.00001
NM_001278716.2(FBXL4):c.1067del (p.Gly356fs) rs1554219474
NM_001278716.2(FBXL4):c.1389+11G>A rs1770815162
NM_001278716.2(FBXL4):c.1641_1642del (p.Cys547_Asp548delinsTer) rs765882664
NM_001278716.2(FBXL4):c.1652T>A (p.Ile551Asn) rs1554215979
NM_001278716.2(FBXL4):c.1698A>G (p.Ile566Met) rs1554215959
NM_001278716.2(FBXL4):c.65G>C (p.Arg22Pro) rs147696366
NM_001278716.2(FBXL4):c.747T>A (p.Asp249Glu) rs138206466

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