ClinVar Miner

List of variants studied for Mitochondrial complex 1 deficiency, nuclear type 31 by MGZ Medical Genetics Center

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_016589.4(TIMMDC1):c.596+1del
NM_016589.4(TIMMDC1):c.751G>T (p.Glu251Ter)

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