ClinVar Miner

List of variants in gene combination SACS, SGCG reported as benign for Sarcoglycanopathy

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Gene type:
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000231.3(SGCG):c.705T>C (p.Leu235=) rs1800353 0.60006
NM_000231.3(SGCG):c.*295T>C rs3829352 0.37163
NM_000231.3(SGCG):c.*254G>A rs3751371 0.31172
NM_000231.3(SGCG):c.*13C>T rs9510701 0.05421
NM_000231.3(SGCG):c.*136T>C rs3751372

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