ClinVar Miner

List of variants in gene KCNT1 reported by Mendelics

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_020822.3(KCNT1):c.600+59A>C rs59909130 0.57178
NM_020822.3(KCNT1):c.600+60G>A rs56375931 0.51258
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly) rs149804567 0.00233
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln) rs151272083 0.00162
NM_020822.3(KCNT1):c.3502+1584G>A rs759235951 0.00006
NM_020822.3(KCNT1):c.3451G>A (p.Glu1151Lys) rs767450181 0.00002
NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys) rs397515405 0.00001
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) rs397515407
NM_020822.3(KCNT1):c.1225C>T (p.Pro409Ser) rs1588344733
NM_020822.3(KCNT1):c.2009-3C>T rs2131520063
NM_020822.3(KCNT1):c.2687T>A (p.Met896Lys) rs1060503696
NM_020822.3(KCNT1):c.3338C>A (p.Ala1113Asp) rs1193627908
NM_020822.3(KCNT1):c.600+71dup rs879903723
NM_020822.3(KCNT1):c.618G>T (p.Gln206His) rs958688368
NM_020822.3(KCNT1):c.841C>T (p.Leu281Phe) rs1057522914

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