ClinVar Miner

List of variants studied for Benign neonatal seizures by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 107
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HGVS dbSNP gnomAD frequency
NM_004519.4(KCNQ3):c.*4958A>G rs1437824 0.82814
NM_004519.4(KCNQ3):c.*1754C>T rs977939 0.36854
NM_004519.4(KCNQ3):c.*6632T>C rs9297840 0.26041
NM_004519.4(KCNQ3):c.*6282A>T rs10095295 0.25405
NM_004519.4(KCNQ3):c.*3035A>G rs2469627 0.22054
NM_004519.4(KCNQ3):c.*7143A>G rs2436125 0.20673
NM_004519.4(KCNQ3):c.*7221C>T rs2436124 0.20669
NM_004519.4(KCNQ3):c.*7119C>T rs2436126 0.20665
NM_004519.4(KCNQ3):c.*6874C>G rs2436129 0.20211
NM_004519.4(KCNQ3):c.*5719C>T rs11786417 0.14483
NM_004519.4(KCNQ3):c.*7506C>T rs11785257 0.14469
NM_004519.4(KCNQ3):c.*4125T>C rs2163608 0.06913
NM_004519.4(KCNQ3):c.*396A>G rs78243592 0.05729
NM_004519.4(KCNQ3):c.1071C>G (p.Leu357=) rs17575754 0.05655
NM_004519.4(KCNQ3):c.*7131G>A rs75865310 0.05438
NM_004519.4(KCNQ3):c.*1050A>C rs76720699 0.05328
NM_004519.4(KCNQ3):c.732T>C (p.Gly244=) rs41272387 0.05313
NM_004519.4(KCNQ3):c.660T>C (p.Asn220=) rs41272389 0.05312
NM_004519.4(KCNQ3):c.*7095T>G rs1437823 0.02520
NM_004519.4(KCNQ3):c.*7371T>G rs76268875 0.02511
NM_004519.4(KCNQ3):c.*6446del rs35153843 0.02379
NM_004519.4(KCNQ3):c.-138T>G rs868425061 0.02363
NM_004519.4(KCNQ3):c.*4316del rs61438560 0.01792
NM_004519.4(KCNQ3):c.*2475C>T rs141143602 0.01668
NM_004519.4(KCNQ3):c.*7413G>C rs111267263 0.01573
NM_004519.4(KCNQ3):c.1700+3G>A rs115092422 0.01419
NM_004519.4(KCNQ3):c.*5255T>C rs146830560 0.00938
NM_004519.4(KCNQ3):c.1551C>T (p.Ala517=) rs35538317 0.00761
NM_004519.4(KCNQ3):c.*5762G>A rs77343115 0.00723
NM_004519.4(KCNQ3):c.*4817G>A rs76758430 0.00586
NM_004519.4(KCNQ3):c.948C>T (p.Thr316=) rs142144538 0.00564
NM_004519.4(KCNQ3):c.*5704C>T rs145396746 0.00474
NM_004519.4(KCNQ3):c.*6174A>G rs116373101 0.00433
NM_004519.4(KCNQ3):c.*3731G>T rs117524261 0.00428
NM_004519.4(KCNQ3):c.*3701G>A rs576940686 0.00391
NM_004519.4(KCNQ3):c.*5578A>G rs148780224 0.00381
NM_004519.4(KCNQ3):c.*7689A>G rs142621198 0.00377
NM_004519.4(KCNQ3):c.*6199C>T rs183259250 0.00240
NM_004519.4(KCNQ3):c.*7722T>A rs138128512 0.00213
NM_004519.4(KCNQ3):c.*3303C>A rs571392133 0.00185
NM_004519.4(KCNQ3):c.*3897C>G rs191691741 0.00166
NM_004519.4(KCNQ3):c.*2847T>C rs138023368 0.00156
NM_004519.4(KCNQ3):c.*3165G>T rs567074601 0.00091
NM_004519.4(KCNQ3):c.*1159G>A rs117218884 0.00087
NM_004519.4(KCNQ3):c.*6831G>A rs529301177 0.00078
NM_004519.4(KCNQ3):c.*1582C>T rs140360332 0.00058
NM_004519.4(KCNQ3):c.*5580G>A rs886062665 0.00055
NM_004519.4(KCNQ3):c.*3280G>C rs550558851 0.00051
NM_004519.4(KCNQ3):c.-85C>T rs765522706 0.00043
NM_004519.4(KCNQ3):c.2349G>A (p.Thr783=) rs145063831 0.00043
NM_004519.4(KCNQ3):c.2330G>A (p.Arg777Gln) rs201328910 0.00034
NM_004519.4(KCNQ3):c.2263G>A (p.Asp755Asn) rs150821246 0.00031
NM_004519.4(KCNQ3):c.*5018C>G rs534993423 0.00029
NM_004519.4(KCNQ3):c.*5391C>T rs569024726 0.00021
NM_004519.4(KCNQ3):c.2462A>G (p.Asn821Ser) rs118192254 0.00021
NM_004519.4(KCNQ3):c.*7015G>A rs886062662 0.00014
NM_004519.4(KCNQ3):c.*4008G>A rs886062670 0.00008
NM_004519.4(KCNQ3):c.*3692T>C rs886062672 0.00006
NM_004519.4(KCNQ3):c.1656C>T (p.Ala552=) rs199722269 0.00006
NM_004519.4(KCNQ3):c.*6461G>A rs886062663 0.00005
NM_004519.4(KCNQ3):c.*7504C>G rs532052931 0.00005
NM_004519.4(KCNQ3):c.1564G>A (p.Val522Ile) rs143683496 0.00004
NM_004519.4(KCNQ3):c.*4027G>A rs529880251 0.00002
NM_004519.4(KCNQ3):c.*6607A>G rs751961648 0.00002
NM_004519.4(KCNQ3):c.1507G>A (p.Gly503Arg) rs773584143 0.00002
NM_004519.4(KCNQ3):c.2071G>A (p.Gly691Ser) rs747379988 0.00002
NM_004519.4(KCNQ3):c.*6205G>T rs886062664 0.00001
NM_004519.4(KCNQ3):c.*6267T>C rs548690680 0.00001
NM_004519.4(KCNQ3):c.*7243C>G rs886062661 0.00001
NM_004519.4(KCNQ3):c.132G>C (p.Gly44=) rs762808143 0.00001
NM_004519.4(KCNQ3):c.*1066A>G rs886062681
NM_004519.4(KCNQ3):c.*1478G>A rs886062680
NM_004519.4(KCNQ3):c.*2013C>T rs886062679
NM_004519.4(KCNQ3):c.*2266_*2269del rs886062678
NM_004519.4(KCNQ3):c.*2385_*2388del rs763323782
NM_004519.4(KCNQ3):c.*3216G>C rs886062675
NM_004519.4(KCNQ3):c.*3261C>T rs181166117
NM_004519.4(KCNQ3):c.*3672C>T rs886062673
NM_004519.4(KCNQ3):c.*4746_*4747insACAG rs112550767
NM_004519.4(KCNQ3):c.*4982del rs35772668
NM_004519.4(KCNQ3):c.*5466T>A rs886062667
NM_004519.4(KCNQ3):c.*5521C>T rs886062666
NM_004519.4(KCNQ3):c.*6351A>G rs781738692
NM_004519.4(KCNQ3):c.*716_*717insAACA rs886062688
NM_004519.4(KCNQ3):c.*717CA[17] rs35230760
NM_004519.4(KCNQ3):c.*717CA[18] 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.*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.-148_-147insTG rs886062698
NM_004519.4(KCNQ3):c.170T>C (p.Leu57Pro) rs886062692
NM_004519.4(KCNQ3):c.1809A>G (p.Pro603=) rs886062691
NM_004519.4(KCNQ3):c.1995G>T (p.Ser665=) rs759776061
NM_004519.4(KCNQ3):c.2274G>A (p.Val758=) rs886062689

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