ClinVar Miner

List of variants studied for Mitochondrial pyruvate carrier deficiency

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_016098.4(MPC1):c.290G>A (p.Arg97Gln) rs1779135449 0.00001
NM_016098.4(MPC1):c.109C>T (p.Pro37Ser) rs2114943862
NM_016098.4(MPC1):c.208G>A (p.Ala70Thr) rs867958037
NM_016098.4(MPC1):c.214A>G (p.Lys72Glu) rs1554264977
NM_016098.4(MPC1):c.220C>A (p.Gln74Lys) rs1779140481
NM_016098.4(MPC1):c.236T>A (p.Leu79His) rs387907238
NM_016098.4(MPC1):c.274C>G (p.Leu92Val)
NM_016098.4(MPC1):c.289C>T (p.Arg97Trp) rs387907237

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