ClinVar Miner

List of variants in gene MPV17 studied for Mitochondrial DNA depletion syndrome

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_002437.5(MPV17):c.27G>T (p.Arg9=) rs35244252 0.00420
NM_002437.5(MPV17):c.*80C>T rs200529035 0.00009
NM_002437.5(MPV17):c.191C>G (p.Pro64Arg) rs375401970 0.00008
NM_002437.5(MPV17):c.293C>T (p.Pro98Leu) rs267607258 0.00006
NM_002437.5(MPV17):c.149G>A (p.Arg50Gln) rs121909721 0.00003
NM_002437.5(MPV17):c.*194G>A rs886055895 0.00001
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln) rs140992482 0.00001
NM_002437.5(MPV17):c.70+5G>A rs267607268 0.00001
NC_000002.11:g.(27535977_27545314)_(27545965_?)del
NM_002437.5(MPV17):c.164T>C (p.Val55Ala) rs575558175
NM_002437.5(MPV17):c.263_265delinsTGT (p.Lys88_Met89delinsMetLeu) rs1679497709
NM_002437.5(MPV17):c.268TTG[1] (p.Leu91del) rs267607264
NM_002437.5(MPV17):c.280G>C (p.Gly94Arg) rs267607257

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