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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NC_000022.10:g.32217598_(32218777_32229900)del
NM_001242896.3(DEPDC5):c.1225del (p.Thr409fs)
NM_001242896.3(DEPDC5):c.1277_1280del (p.Ala426fs)	rs1568963062
NM_001242896.3(DEPDC5):c.1395dup (p.Val466fs)	rs2088167973
NM_001242896.3(DEPDC5):c.1445+1G>A
NM_001242896.3(DEPDC5):c.1696del (p.Gln566fs)	rs2148801285
NM_001242896.3(DEPDC5):c.1725dup (p.His576fs)	rs2148801432
NM_001242896.3(DEPDC5):c.1840A>T (p.Arg614Ter)
NM_001242896.3(DEPDC5):c.2354+2T>A	rs2148953712
NM_001242896.3(DEPDC5):c.2516G>T (p.Gly839Val)	rs1602349641
NM_001242896.3(DEPDC5):c.2694_2703delinsGGACA (p.Asp898fs)	rs1569083500
NM_001242896.3(DEPDC5):c.2697dup (p.Glu900fs)
NM_001242896.3(DEPDC5):c.2800A>G (p.Ser934Gly)
NM_001242896.3(DEPDC5):c.3264G>A (p.Lys1088=)
NM_001242896.3(DEPDC5):c.3460TCC[1] (p.Ser1155del)	rs2092817019
NM_001242896.3(DEPDC5):c.3486-3_3486-1delinsA
NM_001242896.3(DEPDC5):c.4015C>T (p.Gln1339Ter)	rs1309166815
NM_001242896.3(DEPDC5):c.4084_4087dup (p.Arg1363fs)
NM_001242896.3(DEPDC5):c.413+1G>A
NM_001242896.3(DEPDC5):c.4152del (p.Phe1384fs)	rs1339126434
NM_001242896.3(DEPDC5):c.422_423insCTGG (p.Gly142fs)	rs1601755632
NM_001242896.3(DEPDC5):c.436dup (p.Val146fs)	rs2148328679
NM_001242896.3(DEPDC5):c.767+2T>C
NM_001242896.3(DEPDC5):c.828del (p.Lys276fs)
NM_001242896.3(DEPDC5):c.88_89insA (p.Phe30fs)
NM_001242896.3(DEPDC5):c.947-1G>A	rs2148633437

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