ClinVar Miner

List of variants studied for Autosomal recessive limb-girdle muscular dystrophy type 2D by 3billion

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys) rs28933693 0.00046
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_000023.4(SGCA):c.574C>T (p.Arg192Ter) rs387907298 0.00001
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln) rs372210292
NM_000023.4(SGCA):c.696C>G (p.Cys232Trp)

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