ClinVar Miner

List of variants reported for Myofibrillar myopathy by Wellcome Centre for Mitochondrial Research, Newcastle University

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699 0.01015
NM_001927.4(DES):c.735+20C>T rs151226355 0.00694
NM_001927.4(DES):c.46C>T (p.Arg16Cys) rs60798368 0.00001
NM_007078.3(LDB3):c.869C>T (p.Pro290Leu) rs775180716 0.00001
NM_001368067.1(LDB3):c.494C>T (p.Ala165Val) rs121908334
NM_001927.4(DES):c.1069G>C (p.Ala357Pro) rs58898021
NM_001927.4(DES):c.1346A>C (p.Lys449Thr) rs267607485
NM_006790.3(MYOT):c.179C>G (p.Ser60Cys) rs121908458

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