ClinVar Miner

List of variants in gene SGCD reported as pathogenic by OMIM

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Total variants: 7
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HGVS dbSNP
NM_000337.5(SGCD):c.391G>C (p.Ala131Pro) rs267607045
NM_000337.5(SGCD):c.451T>G (p.Ser151Ala) rs121909298
NM_000337.5(SGCD):c.493C>T (p.Arg165Ter) rs121909295
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
SGCD, 3-BP DEL, 710AGA/711GAA

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