ClinVar Miner

List of variants in gene KCNQ3 reported as likely benign for Benign Neonatal Epilepsy

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Gene type:
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Total variants: 32
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HGVS dbSNP gnomAD frequency
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.*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.*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.2462A>G (p.Asn821Ser) rs118192254 0.00021
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.1656C>T (p.Ala552=) rs199722269 0.00006
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.1737G>A (p.Thr579=) rs574981327 0.00002
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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