ClinVar Miner

List of variants reported as benign for Autosomal recessive limb-girdle muscular dystrophy type 2D by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000023.4(SGCA):c.933C>T (p.Val311=) rs1801191 0.08920
NM_000023.4(SGCA):c.37+23G>A rs79410682 0.04607
NM_000023.4(SGCA):c.528C>T (p.Thr176=) rs1801190 0.00868
NM_000023.4(SGCA):c.1120C>T (p.Arg374Cys) rs35495899 0.00527
NM_000023.4(SGCA):c.158-11G>A rs140261054 0.00157
NM_000023.4(SGCA):c.366G>A (p.Leu122=) rs147739328 0.00075
NM_000023.4(SGCA):c.843C>A (p.Ala281=) rs149487996 0.00075
NM_000023.4(SGCA):c.662G>A (p.Arg221His) rs138254713 0.00042
NM_000023.4(SGCA):c.386-16del rs556088617
NM_000023.4(SGCA):c.983+22del rs2509126436

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