ClinVar Miner

List of variants in gene MPC1 reported as uncertain significance for Mitochondrial pyruvate carrier deficiency

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_016098.4(MPC1):c.220C>A (p.Gln74Lys) rs1779140481
NM_016098.4(MPC1):c.274C>G (p.Leu92Val)

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