ClinVar Miner

List of variants reported by Genetics of Mitochondrial Diseases, Imagine Institute

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ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_005548.3(KARS1):c.1354del (p.Leu452fs) rs1567498374
NM_023936.2(MRPS34):c.37G>A (p.Glu13Lys) rs1131692037

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