ClinVar Miner

List of variants studied for Multiple mitochondrial dysfunctions syndrome 4 by OMIM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser) rs730882246
NM_194279.4(ISCA2):c.297del (p.Phe99fs) rs778755775
NM_194279.4(ISCA2):c.334A>G (p.Ser112Gly) rs767352340

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