ClinVar Miner

List of variants in gene combination CASD1, SGCE reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_003919.3(SGCE):c.1253+814G>A rs183951730 0.00875
NM_003919.3(SGCE):c.391-79G>T rs545885131 0.00525
NM_003919.3(SGCE):c.510T>C (p.Asn170=) rs55853245 0.00036
NM_003919.3(SGCE):c.391A>G (p.Ile131Val) rs370609227 0.00015
NM_003919.3(SGCE):c.409C>T (p.Arg137Cys) rs557861177 0.00006
NM_003919.3(SGCE):c.1297+886G>A rs370584439 0.00003
NM_003919.3(SGCE):c.277G>T (p.Gly93Cys) rs149295657 0.00003
NM_003919.3(SGCE):c.764T>C (p.Val255Ala) rs773893939 0.00003
NM_003919.3(SGCE):c.1114C>T (p.Arg372Ter) rs121908492 0.00001
NM_003919.3(SGCE):c.1247C>T (p.Thr416Met) rs560154922 0.00001
NM_003919.3(SGCE):c.304C>T (p.Arg102Ter) rs121908490 0.00001
NM_003919.3(SGCE):c.1010A>C (p.Tyr337Ser)
NM_003919.3(SGCE):c.1045A>G (p.Arg349Gly)
NM_003919.3(SGCE):c.1067T>C (p.Ile356Thr)
NM_003919.3(SGCE):c.1157C>G (p.Thr386Arg) rs370800943
NM_003919.3(SGCE):c.1206C>T (p.His402=)
NM_003919.3(SGCE):c.1254-9_1254-7del rs201696689
NM_003919.3(SGCE):c.1297+854_1297+855del
NM_003919.3(SGCE):c.1297+945T>C
NM_003919.3(SGCE):c.148G>A (p.Val50Ile) rs1562867795
NM_003919.3(SGCE):c.193G>T (p.Glu65Ter) rs1064797339
NM_003919.3(SGCE):c.233-2del rs1562864687
NM_003919.3(SGCE):c.289C>T (p.Arg97Ter) rs121908489
NM_003919.3(SGCE):c.347G>T (p.Gly116Val)
NM_003919.3(SGCE):c.374A>G (p.Lys125Arg)
NM_003919.3(SGCE):c.413C>T (p.Thr138Ile)
NM_003919.3(SGCE):c.436T>C (p.Leu146=) rs752074255
NM_003919.3(SGCE):c.463+695del
NM_003919.3(SGCE):c.463+698_463+699del rs780867069
NM_003919.3(SGCE):c.463+715G>A
NM_003919.3(SGCE):c.549_552del (p.Phe183fs) rs1554352952
NM_003919.3(SGCE):c.663-1G>A rs1799588164
NM_003919.3(SGCE):c.667del (p.Tyr223fs) rs1057519246
NM_003919.3(SGCE):c.707T>G (p.Leu236Ter) rs1554345208
NM_003919.3(SGCE):c.709C>T (p.Arg237Ter) rs398123812
NM_003919.3(SGCE):c.715_719dup (p.Asn241fs) rs1554345179
NM_003919.3(SGCE):c.783del (p.Lys261fs)
NM_003919.3(SGCE):c.788G>A (p.Arg263His) rs375899729
NM_003919.3(SGCE):c.800_804del (p.Phe266_Tyr267insTer) rs1584546056
NM_003919.3(SGCE):c.810G>A (p.Trp270Ter) rs1562811414
NM_003919.3(SGCE):c.811_812del (p.Cys271fs)
NM_003919.3(SGCE):c.812G>A (p.Cys271Tyr) rs372686312
NM_003919.3(SGCE):c.825+3_825+6del rs1562811321
NM_003919.3(SGCE):c.847del (p.Ser283fs)
NM_003919.3(SGCE):c.934_935del (p.Asp312fs)

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