List of variants reported as pathogenic for Epilepsy, familial focal, with variable foci 3

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 114

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HGVS	dbSNP	gnomAD frequency
NM_001077350.3(NPRL3):c.1162-2A>G	rs756257487	0.00005
NM_001077350.3(NPRL3):c.1270C>T (p.Arg424Ter)	rs886037961	0.00001
NC_000016.10:g.(?_100352)_(100529_?)del
NC_000016.10:g.(?_130502)_(130611_?)del
NC_000016.10:g.(?_130502)_(138287_?)del
NC_000016.10:g.(?_138130)_(138287_?)del
NC_000016.10:g.(?_89693)_(100529_?)del
NC_000016.10:g.(?_98125)_(100529_?)del
NC_000016.10:g.92726del	rs2141908063
NC_000016.9:g.(?_136684)_(162794_?)del
NC_000016.9:g.(?_136684)_(169274_?)del
NC_000016.9:g.(?_136684)_(188286_?)del
NC_000016.9:g.(?_136704)_(188266_?)del
NC_000016.9:g.(?_136705)_(139740_?)del
NC_000016.9:g.(?_138677)_(143343_?)del
NC_000016.9:g.(?_138677)_(188286_?)del
NC_000016.9:g.(?_142574)_(150527_?)del
NC_000016.9:g.(?_142584)_(188266_?)del
NC_000016.9:g.(?_143197)_(150527_?)del
NC_000016.9:g.(?_143302)_(152085_?)del
NC_000016.9:g.(?_148123)_(148319_?)del
NC_000016.9:g.(?_148123)_(188286_?)del
NC_000016.9:g.(?_148133)_(188266_?)del
NC_000016.9:g.(?_150360)_(150517_?)del
NC_000016.9:g.(?_160503)_(160624_?)del
NC_000016.9:g.(?_160503)_(162794_?)del
NC_000016.9:g.(?_160503)_(180610_?)del
NC_000016.9:g.(?_160503)_(188266_?)del
NC_000016.9:g.(?_160513)_(180600_?)del
NC_000016.9:g.(?_162601)_(162794_?)del
NC_000016.9:g.(?_162601)_(188266_?)del
NC_000016.9:g.(?_167280)_(169274_?)del
NC_000016.9:g.(?_167280)_(180610_?)del
NC_000016.9:g.(?_167290)_(188266_?)del
NC_000016.9:g.(?_169105)_(188266_?)del
NC_000016.9:g.(?_169105)_(193701_?)del
NC_000016.9:g.(?_169115)_(169264_?)del
NC_000016.9:g.(?_180501)_(188266_?)del
NC_000016.9:g.(?_188129)_(188266_?)del
NC_000016.9:g.(?_188129)_(193701_?)del
NC_000016.9:g.(?_188152)_(189914_?)del
NC_000016.9:g.(?_97132)_(143343_?)del
NC_000016.9:g.(?_97132)_(150527_?)del
NC_000016.9:g.(?_97132)_(167394_?)del
NM_001039476.1(NPRL3):c.931=
NM_001077350.3(NPRL3):c.1025dup (p.Cys343fs)	rs1898837245
NM_001077350.3(NPRL3):c.1034del (p.Tyr345fs)
NM_001077350.3(NPRL3):c.1070del (p.Pro357fs)	rs886037962
NM_001077350.3(NPRL3):c.1078del (p.Asp360fs)
NM_001077350.3(NPRL3):c.1093del (p.Ala366fs)
NM_001077350.3(NPRL3):c.1156C>T (p.Gln386Ter)	rs1371859768
NM_001077350.3(NPRL3):c.1159del (p.Glu387fs)
NM_001077350.3(NPRL3):c.1174C>T (p.Gln392Ter)	rs2141902592
NM_001077350.3(NPRL3):c.1178dup (p.Met393fs)	rs2141902589
NM_001077350.3(NPRL3):c.119-1G>C	rs2141981312
NM_001077350.3(NPRL3):c.1211_1245del (p.Ile404fs)	rs1898686157
NM_001077350.3(NPRL3):c.1213C>T (p.Gln405Ter)	rs1898688345
NM_001077350.3(NPRL3):c.1230_1231del (p.Cys411fs)	rs1898687282
NM_001077350.3(NPRL3):c.1255G>T (p.Glu419Ter)
NM_001077350.3(NPRL3):c.1270dup (p.Arg424fs)	rs1567129567
NM_001077350.3(NPRL3):c.1332_1333dup (p.Leu445fs)	rs1898675878
NM_001077350.3(NPRL3):c.1352-4_1352-1delinsTGACCCATCC	rs886037959
NM_001077350.3(NPRL3):c.1372del (p.Leu458fs)	rs1898627430
NM_001077350.3(NPRL3):c.1375_1376dup (p.Ser460fs)	rs886037960
NM_001077350.3(NPRL3):c.138C>G (p.Tyr46Ter)	rs1021001959
NM_001077350.3(NPRL3):c.1427del (p.Ser476fs)
NM_001077350.3(NPRL3):c.1480G>T (p.Glu494Ter)	rs2141899833
NM_001077350.3(NPRL3):c.1514_1518delinsTTCTGGGGCT (p.Gln505fs)	rs1555439541
NM_001077350.3(NPRL3):c.15del (p.Ser6fs)	rs2141995568
NM_001077350.3(NPRL3):c.169G>T (p.Glu57Ter)
NM_001077350.3(NPRL3):c.189-1G>A	rs1900184374
NM_001077350.3(NPRL3):c.244C>T (p.Gln82Ter)	rs1900181500
NM_001077350.3(NPRL3):c.258del (p.Lys87fs)	rs2141960699
NM_001077350.3(NPRL3):c.269del (p.Asn90fs)
NM_001077350.3(NPRL3):c.274C>T (p.Arg92Ter)	rs1199226176
NM_001077350.3(NPRL3):c.280del (p.Val94fs)	rs2141960644
NM_001077350.3(NPRL3):c.301C>T (p.Gln101Ter)	rs1596528731
NM_001077350.3(NPRL3):c.316C>T (p.Gln106Ter)	rs1215657187
NM_001077350.3(NPRL3):c.318+1G>A	rs2141960559
NM_001077350.3(NPRL3):c.341del (p.Pro114fs)	rs1596526976
NM_001077350.3(NPRL3):c.349del (p.Glu117fs)	rs1900088045
NM_001077350.3(NPRL3):c.377del (p.Val126fs)	rs1596526915
NM_001077350.3(NPRL3):c.419dup (p.Asn140fs)	rs2141950334
NM_001077350.3(NPRL3):c.423_426del (p.Leu142fs)	rs1567139896
NM_001077350.3(NPRL3):c.434_453del (p.Leu145fs)
NM_001077350.3(NPRL3):c.44del (p.Ser15fs)	rs1901211202
NM_001077350.3(NPRL3):c.460C>T (p.Gln154Ter)	rs2141950212
NM_001077350.3(NPRL3):c.481C>T (p.Gln161Ter)	rs1899868619
NM_001077350.3(NPRL3):c.496G>T (p.Glu166Ter)	rs1596522300
NM_001077350.3(NPRL3):c.518dup (p.Gln174fs)	rs2141950064
NM_001077350.3(NPRL3):c.526G>T (p.Glu176Ter)
NM_001077350.3(NPRL3):c.562C>T (p.Gln188Ter)
NM_001077350.3(NPRL3):c.622del (p.Tyr208fs)	rs2141946070
NM_001077350.3(NPRL3):c.644del (p.Gly215fs)	rs1899234101
NM_001077350.3(NPRL3):c.667_670del (p.Ser223fs)
NM_001077350.3(NPRL3):c.726dup (p.Ile243fs)	rs2141925225
NM_001077350.3(NPRL3):c.745G>T (p.Glu249Ter)	rs200041907
NM_001077350.3(NPRL3):c.763_766dup (p.Arg256fs)
NM_001077350.3(NPRL3):c.767+1G>T	rs1567134495
NM_001077350.3(NPRL3):c.767+1del	rs2141925052
NM_001077350.3(NPRL3):c.781del (p.Leu261fs)
NM_001077350.3(NPRL3):c.78C>A (p.Tyr26Ter)	rs2141995468
NM_001077350.3(NPRL3):c.799G>T (p.Glu267Ter)
NM_001077350.3(NPRL3):c.835dup (p.Ser279fs)	rs886037958
NM_001077350.3(NPRL3):c.85C>T (p.Gln29Ter)
NM_001077350.3(NPRL3):c.898C>T (p.Gln300Ter)	rs746975723
NM_001077350.3(NPRL3):c.922C>T (p.Gln308Ter)	rs2141920098
NM_001077350.3(NPRL3):c.922_923dup (p.Gln308fs)	rs1555441032
NM_001077350.3(NPRL3):c.924G>C (p.Gln308His)	rs1596505517
NM_001077350.3(NPRL3):c.931C>T (p.Gln311Ter)	rs1898844513
NM_001077350.3(NPRL3):c.94C>T (p.Gln32Ter)	rs1567152003
NM_001077350.3(NPRL3):c.954C>G (p.Tyr318Ter)	rs1596500172
NM_001077350.3(NPRL3):c.975del (p.Tyr326fs)
NM_001077350.3:c.(118+1_119-1)_(188+1_189-1)del

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