ClinVar Miner

List of variants studied for autosomal dominant nocturnal frontal lobe epilepsy 4

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 131
Download table as spreadsheet
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.383G>A (p.Gly128Asp) rs138682847 0.00058
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.1073G>T (p.Ser358Ile) rs74341575 0.00004
NM_000742.4(CHRNA2):c.1123C>G (p.Pro375Ala) rs746613509 0.00004
NM_000742.4(CHRNA2):c.869C>T (p.Pro290Leu) rs767619637 0.00004
NM_000742.4(CHRNA2):c.*1265T>G rs973667975 0.00003
NM_000742.4(CHRNA2):c.1275T>A (p.Cys425Ter) rs530383631 0.00003
NM_000742.4(CHRNA2):c.1418T>G (p.Val473Gly) rs150254933 0.00003
NM_000742.4(CHRNA2):c.1465-3C>T rs375469296 0.00003
NM_000742.4(CHRNA2):c.883G>A (p.Glu295Lys) rs139727115 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.1052A>G (p.Asn351Ser) rs770305730 0.00002
NM_000742.4(CHRNA2):c.294+5G>A rs774398407 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.1181G>A (p.Arg394His) rs761054762 0.00001
NM_000742.4(CHRNA2):c.1318G>A (p.Gly440Ser) rs1405035752 0.00001
NM_000742.4(CHRNA2):c.1460C>T (p.Ser487Phe) rs994299183 0.00001
NM_000742.4(CHRNA2):c.1516T>A (p.Trp506Arg) rs1012797739 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.362G>T (p.Arg121Leu) rs752422797 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.503C>T (p.Thr168Met) rs766076722 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_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.1152del (p.Pro385fs) rs1812569409
NM_000742.4(CHRNA2):c.1163A>G (p.Glu388Gly) rs886062844
NM_000742.4(CHRNA2):c.121del (p.Leu41fs) rs796052310
NM_000742.4(CHRNA2):c.1354G>T (p.Glu452Ter) rs778197366
NM_000742.4(CHRNA2):c.1393del (p.His465fs) rs1394301488
NM_000742.4(CHRNA2):c.1464+4C>T rs1586388485
NM_000742.4(CHRNA2):c.1465G>T (p.Val489Leu)
NM_000742.4(CHRNA2):c.1478G>A (p.Trp493Ter) rs374449470
NM_000742.4(CHRNA2):c.15T>A (p.Cys5Ter)
NM_000742.4(CHRNA2):c.203G>C (p.Arg68Pro) rs548268816
NM_000742.4(CHRNA2):c.215G>C (p.Arg72Pro) rs201922955
NM_000742.4(CHRNA2):c.404T>G (p.Val135Gly) rs1563321069
NM_000742.4(CHRNA2):c.450-87C>G rs3735757
NM_000742.4(CHRNA2):c.500C>T (p.Ser167Phe) rs1812616489
NM_000742.4(CHRNA2):c.51G>T (p.Trp17Cys)
NM_000742.4(CHRNA2):c.784C>T (p.Arg262Trp)
NM_000742.4(CHRNA2):c.836T>A (p.Ile279Asn) rs104894063
NM_000742.4(CHRNA2):c.889A>T (p.Ile297Phe) rs1554514507
NM_000742.4(CHRNA2):c.907G>C (p.Val303Leu) rs2132652645
NM_000742.4(CHRNA2):c.937C>T (p.Leu313Phe)
NM_000742.4(CHRNA2):c.959C>A (p.Ser320Tyr) rs760884840
NM_000742.4(CHRNA2):c.987_990del (p.Glu330fs) rs1812583233

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.