ClinVar Miner

List of variants in gene DEPDC5 reported as likely pathogenic for Epilepsy, familial focal, with variable foci 1

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Total variants: 12
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HGVS dbSNP
NC_000022.11:g.31778107_31778108insCTGG
NM_001242897.2(DEPDC5):c.1081+2T>G
NM_001242897.2(DEPDC5):c.1277_1280del (p.Ala426fs) rs1568963062
NM_001242897.2(DEPDC5):c.1325-1G>C rs1555882867
NM_001242897.2(DEPDC5):c.1446-1G>T rs1555885023
NM_001242897.2(DEPDC5):c.1870+2387_1870+4243del
NM_001242897.2(DEPDC5):c.2460_2469delinsGGACA (p.Asp820fs) rs1569083500
NM_001242897.2(DEPDC5):c.280-1G>A rs1556526609
NM_001242897.2(DEPDC5):c.3263+1G>A rs1261611694
NM_001242897.2(DEPDC5):c.3263+1G>C rs1261611694
NM_001242897.2(DEPDC5):c.694+1G>A
NM_001242897.2(DEPDC5):c.871+1G>T rs1556607762

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