ClinVar Miner

List of variants in gene KCNT1 reported as likely pathogenic by GeneDx

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Total variants: 13
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HGVS dbSNP
NM_020822.3(KCNT1):c.1061T>G (p.Met354Arg) rs1057522923
NM_020822.3(KCNT1):c.1226C>T (p.Pro409Leu) rs1064794752
NM_020822.3(KCNT1):c.1309C>T (p.Leu437Phe) rs1057518066
NM_020822.3(KCNT1):c.1496A>G (p.His499Arg) rs1554774362
NM_020822.3(KCNT1):c.1612C>T (p.Arg538Cys) rs774588571
NM_020822.3(KCNT1):c.1885A>G (p.Lys629Glu) rs1057522978
NM_020822.3(KCNT1):c.2278A>T (p.Ile760Phe) rs1064795013
NM_020822.3(KCNT1):c.2280C>G (p.Ile760Met) rs370521183
NM_020822.3(KCNT1):c.2677G>A (p.Glu893Lys) rs1554778082
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His) rs200694691
NM_020822.3(KCNT1):c.2944T>C (p.Ser982Pro) rs1057523641
NM_020822.3(KCNT1):c.785G>A (p.Arg262Gln) rs1554771469
NM_020822.3(KCNT1):c.841C>A (p.Leu281Ile) rs1057522914

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