ClinVar Miner

List of variants in gene SGCD reported as pathogenic for Limb-girdle muscular dystrophy, type 2F

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Total variants: 8
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HGVS dbSNP
NC_000005.9:g.(?_156184572)_(156186421_?)del
NM_000337.5(SGCD):c.391G>C (p.Ala131Pro) rs267607045
NM_000337.5(SGCD):c.4-1G>A rs1554094927
NM_000337.5(SGCD):c.493C>T (p.Arg165Ter) rs121909295
NM_000337.5(SGCD):c.74_77dup (p.Ile27fs) rs1554094947
NM_000337.5(SGCD):c.784G>A (p.Glu262Lys) rs121909297
NM_000337.5(SGCD):c.89G>A (p.Trp30Ter) rs121909296
SGCD, 1-BP DEL, 656C

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