ClinVar Miner

List of variants in gene KCNT1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_020822.3(KCNT1):c.1338-3C>T rs369562243 0.00031
NM_020822.3(KCNT1):c.1928G>A (p.Arg643Gln) rs141281093 0.00021
NM_020822.3(KCNT1):c.1995C>T (p.Ile665=) rs757811625 0.00010
NM_020822.3(KCNT1):c.1402-6C>T rs755796820 0.00005
NM_020822.3(KCNT1):c.1510+4C>T rs554828530 0.00005
NM_020822.3(KCNT1):c.1156C>T (p.Leu386Phe) rs780875110 0.00004
NM_020822.3(KCNT1):c.1776C>T (p.Gly592=) rs769406687 0.00004
NM_020822.3(KCNT1):c.2223C>T (p.Asp741=) rs144118960 0.00004
NM_020822.3(KCNT1):c.2594+7C>T rs545094921 0.00004
NM_020822.3(KCNT1):c.3450C>T (p.Ser1150=) rs757210594 0.00004
NM_020822.3(KCNT1):c.3679C>T (p.Pro1227Ser) rs779262121 0.00004
NM_020822.3(KCNT1):c.1777G>A (p.Val593Met) rs779590747 0.00003
NM_020822.3(KCNT1):c.104C>T (p.Ala35Val) rs772080195 0.00002
NM_020822.3(KCNT1):c.1717C>T (p.Arg573Cys) rs557219607 0.00002
NM_020822.3(KCNT1):c.1955G>T (p.Gly652Val) rs536588045 0.00002
NM_020822.3(KCNT1):c.3244C>T (p.Arg1082Cys) rs776232246 0.00002
NM_020822.3(KCNT1):c.3376C>T (p.Arg1126Trp) rs763400879 0.00002
NM_020822.3(KCNT1):c.3502G>A (p.Asp1168Asn) rs747317425 0.00002
NM_020822.3(KCNT1):c.889G>A (p.Glu297Lys) rs146070496 0.00002
NM_020822.3(KCNT1):c.1498G>A (p.Val500Ile) rs778483249 0.00001
NM_020822.3(KCNT1):c.1521G>A (p.Val507=) rs759337224 0.00001
NM_020822.3(KCNT1):c.1664G>A (p.Arg555His) rs764477306 0.00001
NM_020822.3(KCNT1):c.1729G>A (p.Gly577Ser) rs1220099278 0.00001
NM_020822.3(KCNT1):c.1967G>A (p.Gly656Asp) rs775458154 0.00001
NM_020822.3(KCNT1):c.1976G>A (p.Arg659His) rs754634573 0.00001
NM_020822.3(KCNT1):c.2059G>A (p.Gly687Ser) rs1156662870 0.00001
NM_020822.3(KCNT1):c.2096C>T (p.Thr699Met) rs538197009 0.00001
NM_020822.3(KCNT1):c.2174G>C (p.Cys725Ser) rs756112023 0.00001
NM_020822.3(KCNT1):c.2377G>A (p.Ala793Thr) rs1466772062 0.00001
NM_020822.3(KCNT1):c.3100G>A (p.Ala1034Thr) rs779961735 0.00001
NM_020822.3(KCNT1):c.3691G>A (p.Asp1231Asn) rs146193090 0.00001
NM_020822.3(KCNT1):c.3708A>C (p.Ter1236Cys) rs1459930316 0.00001
NM_020822.3(KCNT1):c.398G>A (p.Arg133His) rs201295824 0.00001
NM_020822.3(KCNT1):c.567G>A (p.Leu189=) rs372998864 0.00001
NM_020822.3(KCNT1):c.784C>T (p.Arg262Trp) rs375711140 0.00001
NM_020822.3(KCNT1):c.1198C>G (p.Gln400Glu)
NM_020822.3(KCNT1):c.1401+3G>T rs1564367303
NM_020822.3(KCNT1):c.1652G>T (p.Arg551Leu) rs567764094
NM_020822.3(KCNT1):c.1858G>A (p.Asp620Asn)
NM_020822.3(KCNT1):c.1877A>T (p.Asn626Ile)
NM_020822.3(KCNT1):c.2030A>G (p.Gln677Arg) rs1060505000
NM_020822.3(KCNT1):c.2061_2066del (p.Gly691_Gly692del) rs754629346
NM_020822.3(KCNT1):c.2151C>T (p.Ala717=) rs758589013
NM_020822.3(KCNT1):c.2188G>A (p.Asp730Asn) rs752598622
NM_020822.3(KCNT1):c.2317A>G (p.Lys773Glu)
NM_020822.3(KCNT1):c.2468C>T (p.Ala823Val) rs1833247433
NM_020822.3(KCNT1):c.2523-4A>G
NM_020822.3(KCNT1):c.2869G>T (p.Ala957Ser) rs1277322108
NM_020822.3(KCNT1):c.2977C>A (p.Arg993=) rs368252006
NM_020822.3(KCNT1):c.298C>T (p.Arg100Trp) rs1831067002
NM_020822.3(KCNT1):c.3156+8G>A rs764262230
NM_020822.3(KCNT1):c.3217C>T (p.Arg1073Trp) rs768536067
NM_020822.3(KCNT1):c.3425G>C (p.Arg1142Pro)
NM_020822.3(KCNT1):c.3442G>A (p.Glu1148Lys)
NM_020822.3(KCNT1):c.3467G>A (p.Arg1156His) rs867696317
NM_020822.3(KCNT1):c.3502+1617C>G rs1588412829
NM_020822.3(KCNT1):c.3623C>T (p.Ala1208Val)
NM_020822.3(KCNT1):c.3629G>A (p.Ser1210Asn) rs1834581421
NM_020822.3(KCNT1):c.3641G>C (p.Arg1214Pro)
NM_020822.3(KCNT1):c.385C>A (p.Leu129Ile) rs1402206752
NM_020822.3(KCNT1):c.434+1G>T rs2131411525
NM_020822.3(KCNT1):c.510G>A (p.Val170=) rs1588317755
NM_020822.3(KCNT1):c.643G>C (p.Glu215Gln)
NM_020822.3(KCNT1):c.673A>G (p.Thr225Ala) rs1554770961
NM_020822.3(KCNT1):c.820C>G (p.Leu274Val)
NM_020822.3(KCNT1):c.841C>T (p.Leu281Phe) rs1057522914
NM_020822.3(KCNT1):c.977C>T (p.Pro326Leu) rs777106178

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