ClinVar Miner

List of variants in gene SGCD reported as pathogenic for Dilated cardiomyopathy 1L

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala) rs121909298 0.00013
NM_000337.6(SGCD):c.493C>T (p.Arg165Ter) rs121909295 0.00001
NM_000337.6(SGCD):c.248_249del (p.Asp82_Ser83insTer) rs1561743757
NM_000337.6(SGCD):c.289C>T (p.Arg97Ter) rs758700138
NM_000337.6(SGCD):c.354_358del (p.Thr119fs) rs1760626889
NM_000337.6(SGCD):c.657del (p.Thr220fs) rs1369919728
NM_000337.6(SGCD):c.699+13_699+15del rs397517924

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