List of variants in gene KCNT1 reported as uncertain significance for Inborn genetic diseases

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 96

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HGVS	dbSNP	gnomAD frequency
NM_020822.3(KCNT1):c.1511-4G>A	rs368480443	0.00021
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.32G>A (p.Gly11Glu)	rs1003586835	0.00005
NM_020822.3(KCNT1):c.335-5C>T	rs745658927	0.00005
NM_020822.3(KCNT1):c.3152C>T (p.Ser1051Leu)	rs375749415	0.00004
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.3671C>T (p.Ser1224Phe)	rs769083534	0.00003
NM_020822.3(KCNT1):c.53G>T (p.Arg18Leu)	rs753714293	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.1192C>T (p.Arg398Trp)	rs779209462	0.00002
NM_020822.3(KCNT1):c.1663C>T (p.Arg555Cys)	rs774249834	0.00002
NM_020822.3(KCNT1):c.1838G>A (p.Arg613Gln)	rs571757257	0.00002
NM_020822.3(KCNT1):c.2192A>G (p.Gln731Arg)	rs539503566	0.00002
NM_020822.3(KCNT1):c.2321C>T (p.Ala774Val)	rs777479133	0.00002
NM_020822.3(KCNT1):c.3451G>A (p.Glu1151Lys)	rs767450181	0.00002
NM_020822.3(KCNT1):c.3599G>A (p.Arg1200His)	rs780857518	0.00002
NM_020822.3(KCNT1):c.712G>A (p.Val238Ile)	rs760870883	0.00002
NM_020822.3(KCNT1):c.889G>A (p.Glu297Lys)	rs146070496	0.00002
NM_020822.3(KCNT1):c.107C>T (p.Pro36Leu)	rs746315219	0.00001
NM_020822.3(KCNT1):c.1102G>T (p.Ala368Ser)	rs565492968	0.00001
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.1577C>T (p.Thr526Ile)	rs753874335	0.00001
NM_020822.3(KCNT1):c.1613G>A (p.Arg538His)	rs748178951	0.00001
NM_020822.3(KCNT1):c.1619A>G (p.Gln540Arg)	rs1446587740	0.00001
NM_020822.3(KCNT1):c.1751C>T (p.Ala584Val)	rs1423355423	0.00001
NM_020822.3(KCNT1):c.1957C>A (p.Leu653Met)	rs771481255	0.00001
NM_020822.3(KCNT1):c.2020A>G (p.Met674Val)	rs753401695	0.00001
NM_020822.3(KCNT1):c.2062G>A (p.Gly688Ser)	rs570983410	0.00001
NM_020822.3(KCNT1):c.2072G>A (p.Gly691Glu)	rs1832845859	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.2431G>A (p.Gly811Ser)	rs748756591	0.00001
NM_020822.3(KCNT1):c.2452A>G (p.Ile818Val)	rs1306134073	0.00001
NM_020822.3(KCNT1):c.2648T>C (p.Val883Ala)	rs761236942	0.00001
NM_020822.3(KCNT1):c.2708T>A (p.Val903Asp)	rs771545870	0.00001
NM_020822.3(KCNT1):c.2903G>A (p.Arg968His)	rs1325608473	0.00001
NM_020822.3(KCNT1):c.2950G>A (p.Val984Met)	rs1465054757	0.00001
NM_020822.3(KCNT1):c.3134G>A (p.Ser1045Asn)	rs150501177	0.00001
NM_020822.3(KCNT1):c.3241T>C (p.Ser1081Pro)	rs1312042895	0.00001
NM_020822.3(KCNT1):c.3431C>G (p.Ser1144Cys)	rs766557144	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.493G>A (p.Ala165Thr)	rs149908455	0.00001
NM_020822.3(KCNT1):c.695G>A (p.Arg232Gln)	rs1831563195	0.00001
NM_020822.3(KCNT1):c.914T>C (p.Phe305Ser)	rs1197134262	0.00001
NM_020822.3(KCNT1):c.984G>C (p.Gln328His)	rs1289554527	0.00001
NM_020822.3(KCNT1):c.1003A>T (p.Ile335Phe)	rs1477529193
NM_020822.3(KCNT1):c.1075T>C (p.Ser359Pro)	rs1588342781
NM_020822.3(KCNT1):c.1342G>C (p.Asp448His)	rs2490941646
NM_020822.3(KCNT1):c.144C>A (p.Asp48Glu)
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)	rs2490972452
NM_020822.3(KCNT1):c.2030A>G (p.Gln677Arg)	rs1060505000
NM_020822.3(KCNT1):c.2058C>G (p.Ser686Arg)	rs111647144
NM_020822.3(KCNT1):c.20C>A (p.Ala7Glu)
NM_020822.3(KCNT1):c.2170_2184dup (p.Pro724_Leu728dup)	rs757605635
NM_020822.3(KCNT1):c.2346C>A (p.Asp782Glu)	rs2491010946
NM_020822.3(KCNT1):c.2483G>T (p.Arg828Leu)
NM_020822.3(KCNT1):c.250G>A (p.Asp84Asn)	rs761659648
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)	rs2491088317
NM_020822.3(KCNT1):c.3127A>G (p.Thr1043Ala)	rs2491088370
NM_020822.3(KCNT1):c.3178-3C>T	rs1564393740
NM_020822.3(KCNT1):c.3181C>G (p.Gln1061Glu)	rs2491103811
NM_020822.3(KCNT1):c.3307C>A (p.Pro1103Thr)	rs1347095932
NM_020822.3(KCNT1):c.3415A>G (p.Ser1139Gly)
NM_020822.3(KCNT1):c.3460A>G (p.Lys1154Glu)
NM_020822.3(KCNT1):c.3461A>T (p.Lys1154Met)
NM_020822.3(KCNT1):c.3521A>C (p.Gln1174Pro)
NM_020822.3(KCNT1):c.3544A>C (p.Ile1182Leu)	rs1161862851
NM_020822.3(KCNT1):c.3583A>C (p.Ile1195Leu)	rs1958223798
NM_020822.3(KCNT1):c.492-3C>A	rs1831398385
NM_020822.3(KCNT1):c.515G>A (p.Arg172Lys)
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.618G>T (p.Gln206His)	rs958688368
NM_020822.3(KCNT1):c.619A>C (p.Ile207Leu)
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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