List of variants in gene combination AP3B2, CPEB1 reported as pathogenic for epilepsy

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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: 12

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HGVS	dbSNP	gnomAD frequency
NM_001278512.2(AP3B2):c.2978_2979del (p.Pro993fs)	rs1347618037	0.00001
NM_001278512.2(AP3B2):c.1110+1G>C	rs1057519270
NM_001278512.2(AP3B2):c.1182G>A (p.Lys394=)	rs1057519269
NM_001278512.2(AP3B2):c.1489-245_1665+2029del
NM_001278512.2(AP3B2):c.1837del (p.Glu613fs)	rs1057519272
NM_001278512.2(AP3B2):c.199C>T (p.Arg67Ter)	rs775024756
NM_001278512.2(AP3B2):c.2261+2T>C	rs1555464774
NM_001278512.2(AP3B2):c.2579_2582del (p.Leu860fs)	rs1057519271
NM_001278512.2(AP3B2):c.2929C>T (p.Arg977Ter)
NM_001278512.2(AP3B2):c.445_448del (p.Ala149fs)	rs1369308468
NM_001278512.2(AP3B2):c.641delinsATG (p.Ile214fs)
NM_001278512.2(AP3B2):c.940C>T (p.Gln314Ter)	rs1215589381

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