List of variants in gene combination CHRNA4, LOC126863087 reported as uncertain significance for autosomal dominant nocturnal frontal lobe epilepsy

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 24

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HGVS	dbSNP	gnomAD frequency
NM_000744.7(CHRNA4):c.274G>C (p.Glu92Gln)	rs146651027	0.00029
NM_000744.7(CHRNA4):c.358C>T (p.Arg120Trp)	rs200010568	0.00010
NM_000744.7(CHRNA4):c.334C>T (p.Arg112Cys)	rs375654386	0.00002
NM_000744.7(CHRNA4):c.362C>T (p.Pro121Leu)	rs377114983	0.00002
NM_000744.7(CHRNA4):c.229G>A (p.Asp77Asn)	rs1204737071	0.00001
NM_000744.7(CHRNA4):c.274-1G>A	rs1331861720	0.00001
NM_000744.7(CHRNA4):c.326C>T (p.Thr109Ile)	rs768527293	0.00001
NM_000744.7(CHRNA4):c.367A>G (p.Ile123Val)	rs1360629320	0.00001
NM_000744.7(CHRNA4):c.383+1G>A	rs139129197	0.00001
NM_000744.7(CHRNA4):c.245T>C (p.Met82Thr)	rs2068719750
NM_000744.7(CHRNA4):c.264G>A (p.Trp88Ter)	rs2145401994
NM_000744.7(CHRNA4):c.274-3C>T
NM_000744.7(CHRNA4):c.295C>T (p.Arg99Cys)
NM_000744.7(CHRNA4):c.301G>A (p.Asp101Asn)	rs1427242612
NM_000744.7(CHRNA4):c.305C>T (p.Pro102Leu)	rs759593635
NM_000744.7(CHRNA4):c.335G>A (p.Arg112His)
NM_000744.7(CHRNA4):c.341C>T (p.Pro114Leu)
NM_000744.7(CHRNA4):c.345C>A (p.Ser115=)	rs201033859
NM_000744.7(CHRNA4):c.348G>C (p.Glu116Asp)	rs866334493
NM_000744.7(CHRNA4):c.373C>T (p.Leu125Phe)	rs1568816521
NM_000744.7(CHRNA4):c.378CAA[1] (p.Asn128del)
NM_000744.7(CHRNA4):c.380A>G (p.Asn127Ser)
NM_000744.7(CHRNA4):c.382_383+1dup	rs2145400815
NM_000744.7(CHRNA4):c.383+3G>A

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