ClinVar Miner

List of variants reported as benign 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: 53
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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.*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.*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.45C>T (p.Ser15=) rs149934219 0.00018
NM_000742.4(CHRNA2):c.173C>T (p.Thr58Ile) rs151268950 0.00015
NM_000742.4(CHRNA2):c.1099C>T (p.Arg367Trp) rs751699392 0.00007
NM_000742.4(CHRNA2):c.202C>T (p.Arg68Trp) rs376970816 0.00005
NM_000742.4(CHRNA2):c.930C>T (p.Phe310=) rs554976506 0.00002
NM_000742.4(CHRNA2):c.489C>T (p.Ala163=) rs535699325 0.00001
NM_000742.4(CHRNA2):c.*1667G>A rs577078556
NM_000742.4(CHRNA2):c.-448G>A rs78426134

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