ClinVar Miner

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

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Total variants: 15
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HGVS dbSNP
NC_000016.9:g.(?_159889_160561del
NM_001077350.3(NPRL3):c.301C>T (p.Gln101Ter) rs1596528731
NM_001077350.3(NPRL3):c.318+1G>A
NM_001077350.3(NPRL3):c.423_426del (p.Leu142fs) rs1567139896
NM_001077350.3(NPRL3):c.434T>C (p.Leu145Pro)
NM_001077350.3(NPRL3):c.469G>T (p.Glu157Ter) rs1596522356
NM_001077350.3(NPRL3):c.547+1G>A
NM_001077350.3(NPRL3):c.547+1G>C
NM_001077350.3(NPRL3):c.591_629+634del
NM_001077350.3(NPRL3):c.630-1G>A
NM_001077350.3(NPRL3):c.767+1G>T rs1567134495
NM_001077350.3(NPRL3):c.925-1G>C
NM_001077350.3(NPRL3):c.925-2A>G rs1431914212
NM_001077350.3(NPRL3):c.925-2A>T
NM_001077350.3(NPRL3):c.980C>T (p.Pro327Leu)

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