ClinVar Miner

List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease type 2B1; Mandibuloacral dysplasia with type A lipodystrophy; Emery-Dreifuss muscular dystrophy 3, autosomal recessive by Kariminejad - Najmabadi Pathology & Genetics Center

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Show significances as they were submitted (without aggregation into standard terms)

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_170707.4(LMNA):c.1004G>C (p.Arg335Pro)

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