ClinVar Miner

List of variants reported as uncertain significance for Autosomal recessive limb-girdle muscular dystrophy type 2D by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
GRCh38/hg38 17q21.33(chr17:50169242-50170421)x0
NM_000023.4(SGCA):c.246C>A (p.Ser82Arg)	rs1598265282
NM_000023.4(SGCA):c.37+5G>T

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