ClinVar Miner

List of variants studied for Autosomal dominant mitochondrial myopathy with exercise intolerance by GeneReviews

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_213720.2(CHCHD10):c.[43C>A ;172G>C]
NM_213720.3(CHCHD10):c.176C>T (p.Ser59Leu) rs587777574
NM_213720.3(CHCHD10):c.197G>T (p.Gly66Val) rs730880031
NM_213720.3(CHCHD10):c.44G>T (p.Arg15Leu) rs730880030

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