ClinVar Miner

List of variants reported as uncertain significance for autosomal dominant nocturnal frontal lobe epilepsy by Illumina Laboratory Services, Illumina

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_000742.4(CHRNA2):c.-565T>A rs879442926 0.04553
NM_000742.4(CHRNA2):c.*1603C>A rs535057169 0.00064
NM_000742.4(CHRNA2):c.*386G>T rs542172546 0.00025
NM_000742.4(CHRNA2):c.-544C>T rs886062851 0.00014
NM_000742.4(CHRNA2):c.*997C>G rs539161001 0.00010
NM_000742.4(CHRNA2):c.-136-14T>C rs886062847 0.00006
NM_000742.4(CHRNA2):c.-78C>G rs886062845 0.00006
NM_000742.4(CHRNA2):c.*159G>A rs1026564153 0.00004
NM_000742.4(CHRNA2):c.*1752G>A rs1040675339 0.00004
NM_000742.4(CHRNA2):c.*1775C>T rs773958762 0.00004
NM_000742.4(CHRNA2):c.-537C>T rs564405421 0.00004
NM_000742.4(CHRNA2):c.*1265T>G rs973667975 0.00003
NM_020822.3(KCNT1):c.3149C>T (p.Thr1050Ile) rs1313669242 0.00003
NM_000742.4(CHRNA2):c.-137+11T>C rs886062848 0.00002
NM_000742.4(CHRNA2):c.-471G>A rs886062850 0.00002
NM_000742.4(CHRNA2):c.*1096C>G rs886062842 0.00001
NM_000742.4(CHRNA2):c.*133G>T rs1395465476 0.00001
NM_000742.4(CHRNA2):c.*1845A>T rs377169301 0.00001
NM_000742.4(CHRNA2):c.1103G>T (p.Gly368Val) rs765772636 0.00001
NM_000742.4(CHRNA2):c.1318G>A (p.Gly440Ser) rs1405035752 0.00001
NM_000742.4(CHRNA2):c.260G>A (p.Arg87His) rs532212433 0.00001
NM_000742.4(CHRNA2):c.339+10C>A rs746630071 0.00001
NM_000742.4(CHRNA2):c.430G>A (p.Asp144Asn) rs371067379 0.00001
NM_000742.4(CHRNA2):c.957G>A (p.Pro319=) rs375239013 0.00001
NM_000742.4(CHRNA2):c.*1090C>T rs906182736
NM_000742.4(CHRNA2):c.*1395C>A rs886062841
NM_000742.4(CHRNA2):c.*1688G>C rs996594019
NM_000742.4(CHRNA2):c.*1707C>G rs533752912
NM_000742.4(CHRNA2):c.*1707C>T rs533752912
NM_000742.4(CHRNA2):c.*1769C>G rs1451704235
NM_000742.4(CHRNA2):c.*196G>T rs1267504386
NM_000742.4(CHRNA2):c.*348C>T rs930285465
NM_000742.4(CHRNA2):c.*479G>C rs574004327
NM_000742.4(CHRNA2):c.*662T>C rs1812461161
NM_000742.4(CHRNA2):c.*892T>A rs886062843
NM_000742.4(CHRNA2):c.-133C>T rs886062846
NM_000742.4(CHRNA2):c.-312G>T rs886062849
NM_000742.4(CHRNA2):c.1000T>C (p.Phe334Leu) rs1812582220
NM_000742.4(CHRNA2):c.1084A>T (p.Met362Leu) rs796052301
NM_000742.4(CHRNA2):c.1105dup (p.Ala369fs) rs757376257
NM_000742.4(CHRNA2):c.1163A>G (p.Glu388Gly) rs886062844
NM_000742.4(CHRNA2):c.1354G>T (p.Glu452Ter) rs778197366
NM_000742.4(CHRNA2):c.1464+4C>T rs1586388485
NM_000742.4(CHRNA2):c.203G>C (p.Arg68Pro) rs548268816
NM_000742.4(CHRNA2):c.404T>G (p.Val135Gly) rs1563321069
NM_000742.4(CHRNA2):c.500C>T (p.Ser167Phe) rs1812616489
NM_020822.3(KCNT1):c.1049T>C (p.Val350Ala) rs1329791962
NM_020822.3(KCNT1):c.3544A>C (p.Ile1182Leu) rs1161862851

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