List of variants studied for Epilepsy, familial focal, with variable foci 3 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001077350.3(NPRL3):c.1062C>A (p.His354Gln)	rs1898813434
NM_001077350.3(NPRL3):c.118+3_118+6del	rs1312109237
NM_001077350.3(NPRL3):c.119-1G>C	rs2141981312
NM_001077350.3(NPRL3):c.1287del (p.Phe430fs)	rs1288771812
NM_001077350.3(NPRL3):c.189-1G>A	rs1900184374
NM_001077350.3(NPRL3):c.423_426del (p.Leu142fs)	rs1567139896
NM_001077350.3(NPRL3):c.434T>C (p.Leu145Pro)	rs1899872500
NM_001077350.3(NPRL3):c.547+1G>C	rs1899864955
NM_001077350.3(NPRL3):c.563dup (p.Ser189fs)
NM_001077350.3(NPRL3):c.630-1G>A	rs1899235603
NM_001077350.3(NPRL3):c.736_737insTTTC (p.Glu246fs)
NM_001077350.3(NPRL3):c.768-2del	rs1899110688
NM_001077350.3(NPRL3):c.922C>T (p.Gln308Ter)	rs2141920098
NM_001077350.3(NPRL3):c.980C>T (p.Pro327Leu)	rs1898841618
NM_001077350.3:c.(118+1_119-1)_(188+1_189-1)del
NM_001077350.3:c.(767+1_768-1)_(924+1_925-1)del

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