ClinVar Miner

List of variants studied for Autosomal recessive limb-girdle muscular dystrophy type 2W by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001161403.3(LIMS2):c.964A>T (p.Lys322Ter) rs775673470 0.00001
NM_001161403.3(LIMS2):c.430del (p.His144fs) rs752012358

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