ClinVar Miner

List of variants studied for autosomal dominant nocturnal frontal lobe epilepsy 4 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 99
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HGVS dbSNP gnomAD frequency
NM_000742.4(CHRNA2):c.*1809T>C rs2280375 0.86065
NM_000742.4(CHRNA2):c.*602T>C rs2292976 0.85227
NM_000742.4(CHRNA2):c.*511G>C rs2292977 0.82917
NM_000742.4(CHRNA2):c.373A>G (p.Thr125Ala) rs891398 0.58886
NM_000742.4(CHRNA2):c.*1701C>A rs1057137 0.42655
NM_000742.4(CHRNA2):c.*1159T>C rs1560344 0.41008
NM_000742.4(CHRNA2):c.*755G>A rs2292974 0.40756
NM_000742.4(CHRNA2):c.*721G>T rs2292975 0.40648
NM_000742.4(CHRNA2):c.*1384C>T rs2280376 0.23196
NM_000742.4(CHRNA2):c.351C>T (p.Asp117=) rs2565061 0.17492
NM_000742.4(CHRNA2):c.65C>T (p.Thr22Ile) rs2472553 0.16614
NM_000742.4(CHRNA2):c.-563T>A rs2565060 0.15796
NM_000742.4(CHRNA2):c.-561A>T rs111661898 0.06819
NM_000742.4(CHRNA2):c.-565T>A rs879442926 0.04553
NM_000742.4(CHRNA2):c.*1003G>A rs74974243 0.04107
NM_000742.4(CHRNA2):c.*623G>A rs79796894 0.02803
NM_000742.4(CHRNA2):c.*1480C>T rs113471592 0.02800
NM_000742.4(CHRNA2):c.*936C>T rs112587531 0.02798
NM_000742.4(CHRNA2):c.1324C>T (p.Leu442=) rs56298562 0.01760
NM_000742.4(CHRNA2):c.913C>T (p.Leu305=) rs114294066 0.01308
NM_000742.4(CHRNA2):c.771C>T (p.Tyr257=) rs56229264 0.01257
NM_000742.4(CHRNA2):c.-424C>T rs55726427 0.00829
NM_000742.4(CHRNA2):c.-422G>A rs80025940 0.00813
NM_000742.4(CHRNA2):c.*1006G>A rs145560154 0.00467
NM_000742.4(CHRNA2):c.*108C>T rs147882344 0.00421
NM_000742.4(CHRNA2):c.*1446A>G rs28697263 0.00411
NM_000742.4(CHRNA2):c.*285G>C rs111565880 0.00356
NM_000742.4(CHRNA2):c.*384G>A rs76428534 0.00349
NM_000742.4(CHRNA2):c.-379T>C rs75861520 0.00327
NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu) rs56344740 0.00307
NM_000742.4(CHRNA2):c.449+12T>C rs202012980 0.00236
NM_000742.4(CHRNA2):c.-447T>A rs75312501 0.00225
NM_000742.4(CHRNA2):c.-45C>A rs12114756 0.00222
NM_000742.4(CHRNA2):c.1500C>T (p.Ile500=) rs143223159 0.00150
NM_000742.4(CHRNA2):c.*1849A>G rs531828656 0.00130
NM_000742.4(CHRNA2):c.*1403C>G rs376282591 0.00121
NM_000742.4(CHRNA2):c.*1117G>A rs7840761 0.00117
NM_000742.4(CHRNA2):c.*1603C>A rs535057169 0.00064
NM_000742.4(CHRNA2):c.*771C>T rs572058986 0.00063
NM_000742.4(CHRNA2):c.*1392A>G rs564765220 0.00052
NM_000742.4(CHRNA2):c.1530C>T (p.Ile510=) rs149142237 0.00046
NM_000742.4(CHRNA2):c.166A>T (p.Thr56Ser) rs144185168 0.00040
NM_000742.4(CHRNA2):c.1234G>A (p.Glu412Lys) rs141721605 0.00039
NM_000742.4(CHRNA2):c.140C>T (p.Thr47Met) rs74772771 0.00036
NM_000742.4(CHRNA2):c.*29G>A rs186509115 0.00034
NM_000742.4(CHRNA2):c.340-15C>A rs373046238 0.00029
NM_000742.4(CHRNA2):c.745G>A (p.Ala249Thr) rs77710085 0.00029
NM_000742.4(CHRNA2):c.*386G>T rs542172546 0.00025
NM_000742.4(CHRNA2):c.45C>T (p.Ser15=) rs149934219 0.00018
NM_000742.4(CHRNA2):c.173C>T (p.Thr58Ile) rs151268950 0.00015
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.1099C>T (p.Arg367Trp) rs751699392 0.00007
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.202C>T (p.Arg68Trp) rs376970816 0.00005
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.1123C>G (p.Pro375Ala) rs746613509 0.00004
NM_000742.4(CHRNA2):c.*1265T>G rs973667975 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.930C>T (p.Phe310=) rs554976506 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.489C>T (p.Ala163=) rs535699325 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.*1667G>A rs577078556
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.-448G>A rs78426134
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

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