ClinVar Miner

List of variants reported as uncertain significance for autosomal dominant nocturnal frontal lobe epilepsy by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000744.7(CHRNA4):c.1448G>A (p.Arg483Gln) rs55855125 0.00016
NM_000744.7(CHRNA4):c.358C>T (p.Arg120Trp) rs200010568 0.00010
NM_000744.7(CHRNA4):c.1430C>T (p.Ala477Val) rs200243948 0.00006
NM_020822.3(KCNT1):c.3575C>T (p.Pro1192Leu) rs147654995 0.00006
NM_000742.4(CHRNA2):c.1073G>T (p.Ser358Ile) rs74341575 0.00004
NM_000742.4(CHRNA2):c.869C>T (p.Pro290Leu) rs767619637 0.00004
NM_000742.4(CHRNA2):c.1275T>A (p.Cys425Ter) rs530383631 0.00003
NM_000742.4(CHRNA2):c.294+5G>A rs774398407 0.00002
NM_000744.7(CHRNA4):c.13G>A (p.Gly5Ser) rs1043176387 0.00002
NM_000748.3(CHRNB2):c.640G>A (p.Glu214Lys) rs780175030 0.00002
NM_020822.3(KCNT1):c.2044C>T (p.Arg682Trp) rs750994724 0.00002
NM_020822.3(KCNT1):c.889G>A (p.Glu297Lys) rs146070496 0.00002
NM_000742.4(CHRNA2):c.1516T>A (p.Trp506Arg) rs1012797739 0.00001
NM_000742.4(CHRNA2):c.810C>G (p.Ile270Met) rs892421066 0.00001
NM_000742.4(CHRNA2):c.91C>T (p.Arg31Cys) rs764887214 0.00001
NM_000744.7(CHRNA4):c.687C>G (p.Ile229Met) rs200063611 0.00001
NM_000748.3(CHRNB2):c.1338+3G>T rs886348487 0.00001
NM_000748.3(CHRNB2):c.140G>A (p.Arg47His) rs769249583 0.00001
NM_020822.3(KCNT1):c.1664G>A (p.Arg555His) rs764477306 0.00001
NM_020822.3(KCNT1):c.1975C>T (p.Arg659Cys) rs753599140 0.00001
NM_020822.3(KCNT1):c.2062G>A (p.Gly688Ser) rs570983410 0.00001
NM_020822.3(KCNT1):c.3125G>A (p.Arg1042Gln) rs763578184 0.00001
NM_020822.3(KCNT1):c.3691G>A (p.Asp1231Asn) rs146193090 0.00001
NM_000742.4(CHRNA2):c.1393del (p.His465fs) rs1394301488
NM_000744.7(CHRNA4):c.1667C>G (p.Pro556Arg) rs77345643
NM_000744.7(CHRNA4):c.1792A>G (p.Ile598Val) rs1019612389
NM_000744.7(CHRNA4):c.448C>A (p.Gln150Lys) rs200747769

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.