ClinVar Miner

List of variants reported as likely pathogenic for Bethlem myopathy 1 by Undiagnosed Diseases Network, NIH

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_001848.3(COL6A1):c.809_811del (p.Glu270_Arg271delinsGly) rs1569518070

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