List of variants reported as likely pathogenic for epilepsy by Yale Center for Mendelian Genomics, Yale University

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001205293.3(CACNA1E):c.1042G>C (p.Gly348Arg)	rs2102063243
NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg)	rs886039323
NM_001205293.3(CACNA1E):c.1807A>C (p.Ile603Leu)	rs778291283
NM_001205293.3(CACNA1E):c.2069G>A (p.Gly690Asp)	rs1361083258
NM_001205293.3(CACNA1E):c.2093T>C (p.Phe698Ser)	rs869312920
NM_001205293.3(CACNA1E):c.2098G>A (p.Ala700Thr)	rs2102499747
NM_001205293.3(CACNA1E):c.2101A>G (p.Ile701Val)	rs1558308998
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr)	rs12131800
NM_001205293.3(CACNA1E):c.4264A>T (p.Ile1422Phe)	rs2102689621
NM_001205293.3(CACNA1E):c.4274C>A (p.Thr1425Asn)	rs2102689660
NM_001205293.3(CACNA1E):c.4288G>A (p.Gly1430Arg)	rs1553345844
NM_001205293.3(CACNA1E):c.5159C>G (p.Ala1720Gly)	rs2102795834
NM_001205293.3(CACNA1E):c.683T>C (p.Leu228Pro)	rs1553286282

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