ClinVar Miner

List of variants studied for Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_012123.4(MTO1):c.922A>G (p.Thr308Ala) rs145043138 0.00200
NM_012123.4(MTO1):c.1430G>A (p.Arg477His) rs201544686 0.00028
NM_012123.4(MTO1):c.153_174del (p.Thr53fs) rs1770832882

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