ClinVar Miner

List of variants reported as likely benign for Benign neonatal seizures by Illumina Laboratory Services, Illumina

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_004519.4(KCNQ3):c.*6446del rs35153843 0.02379
NM_004519.4(KCNQ3):c.*4316del rs61438560 0.01792
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.*1582C>T rs140360332 0.00058
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.1656C>T (p.Ala552=) rs199722269 0.00006
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.2071G>A (p.Gly691Ser) rs747379988 0.00002
NM_004519.4(KCNQ3):c.*6267T>C rs548690680 0.00001
NM_004519.4(KCNQ3):c.*3261C>T rs181166117

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