ClinVar Miner

List of variants in gene KCNT1 reported by Genetic Services Laboratory, University of Chicago

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_020822.3(KCNT1):c.2427G>A (p.Thr809=) rs914428 0.64398
NM_020822.3(KCNT1):c.1749G>A (p.Ala583=) rs17038714 0.29915
NM_020822.3(KCNT1):c.978A>G (p.Pro326=) rs61739517 0.02678
NM_020822.3(KCNT1):c.2943+6C>T rs28612938 0.01429
NM_020822.3(KCNT1):c.2210C>T (p.Thr737Met) rs61744696 0.01246
NM_020822.3(KCNT1):c.3388G>A (p.Ala1130Thr) rs138421850 0.00928
NM_020822.3(KCNT1):c.3312G>A (p.Leu1104=) rs149416418 0.00671
NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser) rs200642629 0.00491
NM_020822.3(KCNT1):c.59G>C (p.Gly20Ala) rs146292575 0.00472
NM_020822.3(KCNT1):c.116C>T (p.Pro39Leu) rs201051863 0.00399
NM_020822.3(KCNT1):c.1533G>A (p.Glu511=) rs151080601 0.00325
NM_020822.3(KCNT1):c.333G>A (p.Ser111=) rs56008253 0.00273
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly) rs149804567 0.00233
NM_020822.3(KCNT1):c.3390G>A (p.Ala1130=) rs77912754 0.00140
NM_020822.3(KCNT1):c.3641G>A (p.Arg1214Gln) rs138282349 0.00128
NM_020822.3(KCNT1):c.1879A>G (p.Ile627Val) rs143355299 0.00090
NM_020822.3(KCNT1):c.1134C>T (p.Val378=) rs149960236 0.00088
NM_020822.3(KCNT1):c.2034C>T (p.Gly678=) rs369983077 0.00088
NM_020822.3(KCNT1):c.3157-8C>T rs371874401 0.00088
NM_020822.3(KCNT1):c.2619C>T (p.Gly873=) rs144659358 0.00055
NM_020822.3(KCNT1):c.3340C>T (p.Arg1114Trp) rs370085077 0.00037
NM_020822.3(KCNT1):c.1510+4C>T rs554828530 0.00005
NM_020822.3(KCNT1):c.1257C>G (p.Val419=) rs547714141 0.00001
NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln)
NM_020822.3(KCNT1):c.2809A>G (p.Ser937Gly) rs1554778379
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His) rs200694691
NM_020822.3(KCNT1):c.2944-52CTCC[9] rs55843930
NM_020822.3(KCNT1):c.3139G>A (p.Val1047Ile) rs760000324
NM_020822.3(KCNT1):c.534G>C (p.Ala178=) rs144250793
NM_020822.3(KCNT1):c.711C>G (p.Pro237=) rs117286274

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