ClinVar Miner

List of variants reported as likely pathogenic for Familial focal epilepsy with variable foci by Invitae

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Total variants: 12
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HGVS dbSNP
NC_000022.11:g.(?_31764955)_(31768883_?)dup
NC_000022.11:g.(?_31778079)_(31792837_?)del
NC_000022.11:g.(?_31901722)_(31901822_?)del
NM_001242896.3(DEPDC5):c.1218-1G>C
NM_001242896.3(DEPDC5):c.1673T>C (p.Leu558Pro)
NM_001242896.3(DEPDC5):c.3021+1G>A
NM_001242896.3(DEPDC5):c.364-1G>A
NM_001242896.3(DEPDC5):c.483+1G>A
NM_001242896.3(DEPDC5):c.768-2A>G
NM_001242897.2(DEPDC5):c.1870+2387_1870+4243del
NM_001242897.2(DEPDC5):c.624+1G>A rs886039252
NM_001242897.2(DEPDC5):c.694+1G>A rs1601875057

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