ClinVar Miner

List of variants studied for Autosomal dominant nocturnal frontal lobe epilepsy 5 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys) rs397515405 0.00001
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) rs397515407
NM_020822.3(KCNT1):c.2323C>G (p.Pro775Ala) rs751320619
NM_020822.3(KCNT1):c.2464C>T (p.Arg822Trp) rs746067661
NM_020822.3(KCNT1):c.2686A>G (p.Met896Val)
NM_020822.3(KCNT1):c.2798G>A (p.Arg933His) rs1023136319

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