ClinVar Miner

List of variants studied for Benign Neonatal Epilepsy by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 94
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HGVS dbSNP gnomAD frequency
NM_004519.4(KCNQ3):c.*3597G>A rs1025436 0.82601
NM_004519.4(KCNQ3):c.*3977G>A rs2469628 0.43479
NM_004519.4(KCNQ3):c.*3032A>G rs2469626 0.42325
NM_004519.4(KCNQ3):c.*6812A>G rs7815106 0.26027
NM_004519.4(KCNQ3):c.*6238T>C rs10108362 0.25327
NM_004519.4(KCNQ3):c.*426C>G rs10956640 0.24245
NM_004519.4(KCNQ3):c.*425C>A rs10956641 0.24242
NM_004519.4(KCNQ3):c.*6340G>A rs2469629 0.21022
NM_004519.4(KCNQ3):c.*6956A>G rs2469630 0.20752
NM_004519.4(KCNQ3):c.*8148G>A rs1437822 0.20680
NM_004519.4(KCNQ3):c.*5932A>C rs2436130 0.20676
NM_004519.4(KCNQ3):c.*7075A>G rs2436127 0.20581
NM_004519.4(KCNQ3):c.*7033T>C rs2436128 0.20576
NM_004519.4(KCNQ3):c.*2137C>T rs2272679 0.08712
NM_004519.4(KCNQ3):c.*2166A>G rs35279095 0.02440
NM_004519.4(KCNQ3):c.*6446del rs35153843 0.02379
NM_004519.4(KCNQ3):c.*1697C>G rs71526238 0.02377
NM_004519.4(KCNQ3):c.*7464C>A rs35604597 0.02371
NM_004519.4(KCNQ3):c.1241A>G (p.Glu414Gly) rs2303995 0.02242
NM_004519.4(KCNQ3):c.*1407A>C rs76570743 0.02131
NM_004519.4(KCNQ3):c.*4316del rs61438560 0.01792
NM_004519.4(KCNQ3):c.*1383C>T rs146987908 0.01123
NM_004519.4(KCNQ3):c.*4258T>C rs113937538 0.01032
NM_004519.4(KCNQ3):c.*3823G>A rs17651980 0.00951
NM_004519.4(KCNQ3):c.*3957A>G rs16904601 0.00945
NM_004519.4(KCNQ3):c.2306C>A (p.Pro769His) rs114095081 0.00702
NM_004519.4(KCNQ3):c.*4736G>A rs114070302 0.00623
NM_004519.4(KCNQ3):c.-65C>T rs180674534 0.00507
NM_004519.4(KCNQ3):c.*3544A>G rs61190986 0.00393
NM_004519.4(KCNQ3):c.*4949G>T rs561176499 0.00201
NM_004519.4(KCNQ3):c.*4043C>T rs117527951 0.00184
NM_004519.4(KCNQ3):c.*2271T>A rs149825293 0.00182
NM_004519.4(KCNQ3):c.*5965T>C rs537622929 0.00150
NM_004519.4(KCNQ3):c.*1384G>A rs528989294 0.00131
NM_004519.4(KCNQ3):c.*3591T>C rs778136645 0.00130
NM_004519.4(KCNQ3):c.*828T>C rs79953574 0.00091
NM_004519.4(KCNQ3):c.*2876C>G rs572963665 0.00085
NM_004519.4(KCNQ3):c.*4551T>C rs184864538 0.00053
NM_004519.4(KCNQ3):c.*2010T>A rs139631143 0.00037
NM_004519.4(KCNQ3):c.*6460C>T rs763946605 0.00036
NM_004519.4(KCNQ3):c.2462A>G (p.Asn821Ser) rs118192254 0.00021
NM_004519.4(KCNQ3):c.*4479C>T rs886062669 0.00016
NM_004519.4(KCNQ3):c.*5761C>T rs746747886 0.00016
NM_004519.4(KCNQ3):c.-54C>G rs772067108 0.00016
NM_004519.4(KCNQ3):c.*7214G>A rs150753935 0.00010
NM_004519.4(KCNQ3):c.*7331A>G rs557322356 0.00009
NM_004519.4(KCNQ3):c.*4982A>T rs545252668 0.00007
NM_004519.4(KCNQ3):c.1656C>T (p.Ala552=) rs199722269 0.00006
NM_004519.4(KCNQ3):c.2165G>A (p.Arg722Gln) rs377725346 0.00005
NM_004519.4(KCNQ3):c.*3262G>A rs866041778 0.00004
NM_004519.4(KCNQ3):c.*5482A>G rs192695801 0.00004
NM_004519.4(KCNQ3):c.*1676T>C rs574831064 0.00003
NM_004519.4(KCNQ3):c.*4481C>A rs886062668 0.00003
NM_004519.4(KCNQ3):c.-156C>T rs886062699 0.00003
NM_004519.4(KCNQ3):c.2079G>A (p.Pro693=) rs145204452 0.00003
NM_004519.4(KCNQ3):c.1737G>A (p.Thr579=) rs574981327 0.00002
NM_004519.4(KCNQ3):c.*7512T>G rs886062660 0.00001
NM_004519.4(KCNQ3):c.145G>A (p.Asp49Asn) rs886062693 0.00001
NM_004519.4(KCNQ3):c.1980C>A (p.Thr660=) rs886062690 0.00001
NM_004519.4(KCNQ3):c.*2266_*2269del rs886062678
NM_004519.4(KCNQ3):c.*2385_*2388del rs763323782
NM_004519.4(KCNQ3):c.*2921T>C rs886062676
NM_004519.4(KCNQ3):c.*3217C>T rs886062674
NM_004519.4(KCNQ3):c.*3805C>T rs886062671
NM_004519.4(KCNQ3):c.*4243A>T rs2436131
NM_004519.4(KCNQ3):c.*4746_*4747insACAG rs112550767
NM_004519.4(KCNQ3):c.*4982del rs35772668
NM_004519.4(KCNQ3):c.*5521C>T rs886062666
NM_004519.4(KCNQ3):c.*716_*717insAACA rs886062688
NM_004519.4(KCNQ3):c.*717CA[17] rs35230760
NM_004519.4(KCNQ3):c.*717CA[20] rs35230760
NM_004519.4(KCNQ3):c.*717CA[21] rs35230760
NM_004519.4(KCNQ3):c.*717CA[23] rs35230760
NM_004519.4(KCNQ3):c.*732A>G rs886062687
NM_004519.4(KCNQ3):c.*743C>T rs886062686
NM_004519.4(KCNQ3):c.*755_*758del rs886062684
NM_004519.4(KCNQ3):c.*755_*760del rs886062683
NM_004519.4(KCNQ3):c.*757CA[1] rs886062682
NM_004519.4(KCNQ3):c.*7980dup rs886062659
NM_004519.4(KCNQ3):c.-130_-129dup rs886062694
NM_004519.4(KCNQ3):c.-134dup rs886062695
NM_004519.4(KCNQ3):c.-135_-134dup rs886062695
NM_004519.4(KCNQ3):c.-136_-134dup rs886062695
NM_004519.4(KCNQ3):c.-138del rs886062696
NM_004519.4(KCNQ3):c.-139dup rs879019805
NM_004519.4(KCNQ3):c.-140_-139dup rs879019805
NM_004519.4(KCNQ3):c.-140_-139insTG rs886062697
NM_004519.4(KCNQ3):c.-141_-139dup rs879019805
NM_004519.4(KCNQ3):c.-142G>T rs28606540
NM_004519.4(KCNQ3):c.-148_-147insTG rs886062698
NM_004519.4(KCNQ3):c.170T>C (p.Leu57Pro) rs886062692
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser) rs74582884
NM_004519.4(KCNQ3):c.1958A>G (p.Gln653Arg) rs554833870
NM_004519.4(KCNQ3):c.2262C>T (p.Leu754=) rs555827251

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