ClinVar Miner

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

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000023.4(SGCA):c.739G>A (p.Val247Met)	rs143570936	0.00019
NM_000023.4(SGCA):c.101G>A (p.Arg34His)	rs371675217	0.00001
NM_000023.4(SGCA):c.981_982dup (p.Asp328fs)	rs796065318

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