ClinVar Miner

List of variants in gene KCNT1 reported as likely benign by Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_020822.3(KCNT1):c.2944-19T>C rs759060806 0.12219
NM_020822.3(KCNT1):c.2943+6C>T rs28612938 0.01429
NM_020822.3(KCNT1):c.3388G>A (p.Ala1130Thr) rs138421850 0.00928
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.2543A>G (p.Glu848Gly) rs149804567 0.00233
NM_020822.3(KCNT1):c.3383C>T (p.Ala1128Val) rs143704418 0.00182
NM_020822.3(KCNT1):c.3239G>T (p.Gly1080Val) rs200250181 0.00159
NM_020822.3(KCNT1):c.601-13C>G rs202113794 0.00068
NM_020822.3(KCNT1):c.3685A>G (p.Thr1229Ala) rs74533482 0.00057
NM_020822.3(KCNT1):c.3340C>T (p.Arg1114Trp) rs370085077 0.00037

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