ClinVar Miner

List of variants in gene KCNT1 reported as uncertain significance by Ambry Genetics

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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_020822.3(KCNT1):c.1511-4G>A rs368480443 0.00024
NM_020822.3(KCNT1):c.1077_1078del (p.Gly361fs) rs796214553 0.00007
NM_020822.3(KCNT1):c.3281C>T (p.Thr1094Met) rs373041291 0.00006
NM_020822.3(KCNT1):c.3575C>T (p.Pro1192Leu) rs147654995 0.00006
NM_020822.3(KCNT1):c.335-5C>T rs745658927 0.00005
NM_020822.3(KCNT1):c.1407C>G (p.His469Gln) rs537722828 0.00003
NM_020822.3(KCNT1):c.1777G>A (p.Val593Met) rs779590747 0.00003
NM_020822.3(KCNT1):c.2045G>A (p.Arg682Gln) rs1188425438 0.00003
NM_020822.3(KCNT1):c.2176G>A (p.Asp726Asn) rs1367605908 0.00003
NM_020822.3(KCNT1):c.2224G>A (p.Glu742Lys) rs749302270 0.00003
NM_020822.3(KCNT1):c.2226G>C (p.Glu742Asp) rs754932579 0.00003
NM_020822.3(KCNT1):c.3149C>T (p.Thr1050Ile) rs1313669242 0.00003
NM_020822.3(KCNT1):c.3274C>T (p.Arg1092Cys) rs1060503695 0.00003
NM_020822.3(KCNT1):c.3671C>T (p.Ser1224Phe) rs769083534 0.00003
NM_020822.3(KCNT1):c.675G>A (p.Thr225=) rs773255063 0.00003
NM_020822.3(KCNT1):c.1103C>T (p.Ala368Val) rs928555901 0.00002
NM_020822.3(KCNT1):c.1838G>A (p.Arg613Gln) rs571757257 0.00002
NM_020822.3(KCNT1):c.2321C>T (p.Ala774Val) rs777479133 0.00002
NM_020822.3(KCNT1):c.3599G>A (p.Arg1200His) rs780857518 0.00002
NM_020822.3(KCNT1):c.889G>A (p.Glu297Lys) rs146070496 0.00002
NM_020822.3(KCNT1):c.1336A>C (p.Lys446Gln) rs144824627 0.00001
NM_020822.3(KCNT1):c.1381G>C (p.Glu461Gln) rs141311481 0.00001
NM_020822.3(KCNT1):c.1619A>G (p.Gln540Arg) rs1446587740 0.00001
NM_020822.3(KCNT1):c.1957C>A (p.Leu653Met) rs771481255 0.00001
NM_020822.3(KCNT1):c.2062G>A (p.Gly688Ser) rs570983410 0.00001
NM_020822.3(KCNT1):c.218T>C (p.Leu73Pro) rs748537758 0.00001
NM_020822.3(KCNT1):c.2349+4A>G rs745399878 0.00001
NM_020822.3(KCNT1):c.2350-5C>T rs965133345 0.00001
NM_020822.3(KCNT1):c.2452A>G (p.Ile818Val) rs1306134073 0.00001
NM_020822.3(KCNT1):c.2903G>A (p.Arg968His) rs1325608473 0.00001
NM_020822.3(KCNT1):c.3445C>T (p.Leu1149Phe) rs1177972273 0.00001
NM_020822.3(KCNT1):c.3586G>A (p.Val1196Ile) rs1171803758 0.00001
NM_020822.3(KCNT1):c.1003A>T (p.Ile335Phe)
NM_020822.3(KCNT1):c.1075T>C (p.Ser359Pro)
NM_020822.3(KCNT1):c.1102G>T (p.Ala368Ser)
NM_020822.3(KCNT1):c.16G>C (p.Gly6Arg) rs773874266
NM_020822.3(KCNT1):c.1748C>T (p.Ala583Val) rs1554774904
NM_020822.3(KCNT1):c.1806CAA[1] (p.Asn603del) rs752708934
NM_020822.3(KCNT1):c.1853C>T (p.Ala618Val) rs1832713510
NM_020822.3(KCNT1):c.1943T>C (p.Phe648Ser)
NM_020822.3(KCNT1):c.2030A>G (p.Gln677Arg) rs1060505000
NM_020822.3(KCNT1):c.2058C>G (p.Ser686Arg)
NM_020822.3(KCNT1):c.2072G>A (p.Gly691Glu)
NM_020822.3(KCNT1):c.2170_2184dup (p.Pro724_Leu728dup) rs757605635
NM_020822.3(KCNT1):c.2192A>G (p.Gln731Arg)
NM_020822.3(KCNT1):c.2346C>A (p.Asp782Glu)
NM_020822.3(KCNT1):c.2708T>A (p.Val903Asp)
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His) rs200694691
NM_020822.3(KCNT1):c.3078C>G (p.Phe1026Leu) rs1588401995
NM_020822.3(KCNT1):c.3092C>T (p.Ser1031Phe) rs750371003
NM_020822.3(KCNT1):c.3122A>G (p.Tyr1041Cys)
NM_020822.3(KCNT1):c.3178-3C>T rs1564393740
NM_020822.3(KCNT1):c.3181C>G (p.Gln1061Glu)
NM_020822.3(KCNT1):c.3307C>A (p.Pro1103Thr) rs1347095932
NM_020822.3(KCNT1):c.3544A>C (p.Ile1182Leu) rs1161862851
NM_020822.3(KCNT1):c.3583A>C (p.Ile1195Leu)
NM_020822.3(KCNT1):c.492-3C>A rs1831398385
NM_020822.3(KCNT1):c.493G>A (p.Ala165Thr) rs149908455
NM_020822.3(KCNT1):c.556A>G (p.Ile186Val) rs1831515095
NM_020822.3(KCNT1):c.572C>T (p.Thr191Met) rs1429039180
NM_020822.3(KCNT1):c.695G>A (p.Arg232Gln)
NM_020822.3(KCNT1):c.785G>A (p.Arg262Gln) rs1554771469
NM_020822.3(KCNT1):c.898T>C (p.Ser300Pro) rs1564356207
NM_020822.3(KCNT1):c.94G>T (p.Gly32Cys) rs754823810
NM_020822.3(KCNT1):c.962C>T (p.Thr321Met) rs1588330851

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