ClinVar Miner

List of variants in gene SGCD reported as pathogenic

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala) rs121909298 0.00012
NM_000337.6(SGCD):c.10C>T (p.Gln4Ter) rs1768838504 0.00001
NM_000337.6(SGCD):c.4-1G>A rs1554094927 0.00001
NM_000337.6(SGCD):c.493C>T (p.Arg165Ter) rs121909295 0.00001
NC_000005.10:g.(?_156329567)_(156344687_?)del
NC_000005.10:g.(?_156757561)_(156759410_?)del
NC_000005.9:g.(?_155338082)_(156186411_?)del
NC_000005.9:g.(?_155756587)_(156074566_?)del
NC_000005.9:g.(?_155756587)_(156184735_?)del
NC_000005.9:g.(?_155935601)_(156074556_?)del
NC_000005.9:g.(?_156074454)_(156074566_?)del
NC_000005.9:g.(?_156184572)_(156184735_?)del
NM_000337.6(SGCD):c.133_172dup (p.Lys58fs)
NM_000337.6(SGCD):c.248_249del (p.Asp82_Ser83insTer)
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.390del (p.Ala131fs) rs397517921
NM_000337.6(SGCD):c.391G>C (p.Ala131Pro) rs267607045
NM_000337.6(SGCD):c.414dup (p.Phe139fs)
NM_000337.6(SGCD):c.443T>A (p.Leu148Ter) rs886043460
NM_000337.6(SGCD):c.466G>T (p.Glu156Ter) rs2113389536
NM_000337.6(SGCD):c.481_485dup (p.Arg163fs)
NM_000337.6(SGCD):c.540_541del (p.Thr180_Pro181insTer)
NM_000337.6(SGCD):c.568G>T (p.Glu190Ter) rs1412814368
NM_000337.6(SGCD):c.654_655del (p.Glu218fs)
NM_000337.6(SGCD):c.657del (p.Thr220fs) rs1369919728
NM_000337.6(SGCD):c.65dup (p.Tyr23fs) rs886043031
NM_000337.6(SGCD):c.699+13_699+15del rs397517924
NM_000337.6(SGCD):c.74_77dup (p.Ile27fs) rs1554094947
NM_000337.6(SGCD):c.784G>A (p.Glu262Lys) rs121909297
NM_000337.6(SGCD):c.89G>A (p.Trp30Ter) rs121909296
NM_000337.6(SGCD):c.90G>A (p.Trp30Ter)
NM_000337.6(SGCD):c.97C>T (p.Arg33Ter) rs778760498

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