ClinVar Miner

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

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Total variants: 38
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HGVS dbSNP
NC_000022.11:g.(?_31754902)_(31754999_?)del
NC_000022.11:g.(?_31754902)_(31784895_?)del
NC_000022.11:g.(?_31754902)_(31815449_?)del
NC_000022.11:g.(?_31760636)_(31760722_?)del
NC_000022.11:g.(?_31792013)_(31792122_?)del
NC_000022.11:g.(?_31809591)_(31815232_?)del
NM_001242896.3(DEPDC5):c.1018del (p.Val340fs) rs1601970168
NM_001242896.3(DEPDC5):c.1121_1122dup (p.His375fs)
NM_001242896.3(DEPDC5):c.2826G>A (p.Trp942Ter)
NM_001242896.3(DEPDC5):c.2857_2858del (p.Val953fs)
NM_001242896.3(DEPDC5):c.3095del (p.Pro1032fs)
NM_001242896.3(DEPDC5):c.319C>T (p.Gln107Ter)
NM_001242896.3(DEPDC5):c.3436C>T (p.Gln1146Ter)
NM_001242896.3(DEPDC5):c.3655dup (p.Glu1219fs)
NM_001242896.3(DEPDC5):c.4291_4294del (p.Tyr1431fs)
NM_001242896.3(DEPDC5):c.4530del (p.Leu1511fs)
NM_001242896.3(DEPDC5):c.677dup (p.Tyr226Ter)
NM_001242896.3(DEPDC5):c.832_833del (p.Phe278fs)
NM_001242896.3(DEPDC5):c.862G>T (p.Glu288Ter)
NM_001242897.2(DEPDC5):c.1133del (p.Pro378fs) rs1568955379
NM_001242897.2(DEPDC5):c.1264C>T (p.Arg422Ter) rs757511744
NM_001242897.2(DEPDC5):c.1453C>T (p.Arg485Ter) rs1568991466
NM_001242897.2(DEPDC5):c.1555C>T (p.Gln519Ter) rs886039261
NM_001242897.2(DEPDC5):c.1663C>T (p.Arg555Ter) rs587776973
NM_001242897.2(DEPDC5):c.21C>G (p.Tyr7Ter) rs768241563
NM_001242897.2(DEPDC5):c.2386C>T (p.Arg796Ter) rs578185749
NM_001242897.2(DEPDC5):c.2660_2685del (p.His887fs) rs1555900914
NM_001242897.2(DEPDC5):c.280-1G>A rs1556526609
NM_001242897.2(DEPDC5):c.3025C>T (p.Arg1009Ter) rs587777458
NM_001242897.2(DEPDC5):c.346C>T (p.Arg116Ter) rs1315483224
NM_001242897.2(DEPDC5):c.3502C>T (p.Arg1168Ter) rs886039268
NM_001242897.2(DEPDC5):c.3907C>T (p.Gln1303Ter) rs1602903591
NM_001242897.2(DEPDC5):c.418C>T (p.Gln140Ter) rs786205703
NM_001242897.2(DEPDC5):c.4201C>T (p.Gln1401Ter) rs1603014708
NM_001242897.2(DEPDC5):c.526C>T (p.Gln176Ter) rs886039251
NM_001242897.2(DEPDC5):c.562+1G>A rs1057524233
NM_001242897.2(DEPDC5):c.784_785GA[2] (p.Arg263fs) rs1569523728
NM_001242897.2(DEPDC5):c.856C>T (p.Arg286Ter) rs886039255

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