ClinVar Miner

List of variants studied for Multiple mitochondrial dysfunctions syndrome 5

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_030940.4(ISCA1):c.259G>A (p.Glu87Lys) rs776679653 0.00001
NM_030940.4(ISCA1):c.20G>C (p.Arg7Pro) rs766827180
NM_030940.4(ISCA1):c.29T>G (p.Val10Gly) rs1587823007

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