ClinVar Miner

List of variants in gene combination CASD1, SGCE reported as pathogenic by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_003919.3(SGCE):c.272T>G (p.Leu91Ter)
NM_003919.3(SGCE):c.289C>T (p.Arg97Ter) rs121908489
NM_003919.3(SGCE):c.314A>G (p.Gln105Arg) rs1584692239
NM_003919.3(SGCE):c.619del (p.Arg207fs) rs1554352819
NM_003919.3(SGCE):c.703dup (p.Cys235fs)
NM_003919.3(SGCE):c.778A>T (p.Lys260Ter)
NM_003919.3(SGCE):c.783dup (p.Phe262fs) rs1189469219
NM_003919.3(SGCE):c.786del (p.Arg263fs) rs1584546238
NM_003919.3(SGCE):c.812G>A (p.Cys271Tyr) rs372686312
NM_003919.3(SGCE):c.898_899del (p.Glu300fs)

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