ClinVar Miner

List of variants reported as likely pathogenic for Inborn mitochondrial myopathy

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_018116.4(MSTO1):c.706G>C (p.Asp236His) rs753488873 0.00013
NM_018116.4(MSTO1):c.651C>G (p.Phe217Leu) rs776826330 0.00012
NM_015340.4(LARS2):c.308G>A (p.Arg103His) rs757204777 0.00004
NM_001397406.1(FDX2):c.422C>T (p.Pro141Leu) rs888630930
NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp) rs864321624

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