ClinVar Miner

List of variants studied for Epilepsy, familial focal, with variable foci 3 by OMIM

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001077350.3(NPRL3):c.1270C>T (p.Arg424Ter) rs886037961 0.00001
NM_001077350.3(NPRL3):c.1070del (p.Pro357fs) rs886037962
NM_001077350.3(NPRL3):c.1352-4_1352-1delinsTGACCCATCC rs886037959
NM_001077350.3(NPRL3):c.1375_1376dup (p.Ser460fs) rs886037960
NM_001077350.3(NPRL3):c.349del (p.Glu117fs) rs1900088045
NM_001077350.3(NPRL3):c.835dup (p.Ser279fs) rs886037958

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