ClinVar Miner

List of variants in gene KCNT1 reported as uncertain significance by CeGaT Praxis fuer Humangenetik Tuebingen

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Gene type:
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Total variants: 47
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HGVS dbSNP
NM_020822.3(KCNT1):c.104C>T (p.Ala35Val) rs772080195
NM_020822.3(KCNT1):c.1156C>T (p.Leu386Phe) rs780875110
NM_020822.3(KCNT1):c.1258C>T (p.Leu420=) rs199996353
NM_020822.3(KCNT1):c.1327A>T (p.Met443Leu) rs201908490
NM_020822.3(KCNT1):c.1337+7G>A rs374975940
NM_020822.3(KCNT1):c.1338-3C>T rs369562243
NM_020822.3(KCNT1):c.1401+3G>T rs1564367303
NM_020822.3(KCNT1):c.1402-6C>T rs755796820
NM_020822.3(KCNT1):c.1510+4C>T rs554828530
NM_020822.3(KCNT1):c.1521G>A (p.Val507=) rs759337224
NM_020822.3(KCNT1):c.1628A>G (p.Gln543Arg) rs200173000
NM_020822.3(KCNT1):c.1652G>T (p.Arg551Leu) rs567764094
NM_020822.3(KCNT1):c.1664G>A (p.Arg555His) rs764477306
NM_020822.3(KCNT1):c.1717C>T (p.Arg573Cys) rs557219607
NM_020822.3(KCNT1):c.1776C>T (p.Gly592=) rs769406687
NM_020822.3(KCNT1):c.1777G>A (p.Val593Met) rs779590747
NM_020822.3(KCNT1):c.1928G>A (p.Arg643Gln) rs141281093
NM_020822.3(KCNT1):c.1955G>T (p.Gly652Val)
NM_020822.3(KCNT1):c.1967G>A (p.Gly656Asp) rs775458154
NM_020822.3(KCNT1):c.1976G>A (p.Arg659His) rs754634573
NM_020822.3(KCNT1):c.1995C>T (p.Ile665=) rs757811625
NM_020822.3(KCNT1):c.2059G>A (p.Gly687Ser) rs1156662870
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.2174G>C (p.Cys725Ser) rs756112023
NM_020822.3(KCNT1):c.2188G>A (p.Asp730Asn) rs752598622
NM_020822.3(KCNT1):c.2223C>T (p.Asp741=) rs144118960
NM_020822.3(KCNT1):c.2468C>T (p.Ala823Val)
NM_020822.3(KCNT1):c.2594+7C>T rs545094921
NM_020822.3(KCNT1):c.2977C>A (p.Arg993=) rs368252006
NM_020822.3(KCNT1):c.3217C>T (p.Arg1073Trp)
NM_020822.3(KCNT1):c.3244C>T (p.Arg1082Cys) rs776232246
NM_020822.3(KCNT1):c.3281C>T (p.Thr1094Met) rs373041291
NM_020822.3(KCNT1):c.3376C>T (p.Arg1126Trp) rs763400879
NM_020822.3(KCNT1):c.3450C>T (p.Ser1150=) rs757210594
NM_020822.3(KCNT1):c.3467G>A (p.Arg1156His)
NM_020822.3(KCNT1):c.3501C>T (p.Tyr1167=) rs773575309
NM_020822.3(KCNT1):c.3502+1617C>G rs1588412829
NM_020822.3(KCNT1):c.3502G>A (p.Asp1168Asn) rs747317425
NM_020822.3(KCNT1):c.3629G>A (p.Ser1210Asn)
NM_020822.3(KCNT1):c.3679C>T (p.Pro1227Ser) rs779262121
NM_020822.3(KCNT1):c.3691G>A (p.Asp1231Asn) rs146193090
NM_020822.3(KCNT1):c.385C>A (p.Leu129Ile) rs1402206752
NM_020822.3(KCNT1):c.510G>A (p.Val170=) rs1588317755
NM_020822.3(KCNT1):c.567G>A (p.Leu189=) rs372998864
NM_020822.3(KCNT1):c.673A>G (p.Thr225Ala) rs1554770961
NM_020822.3(KCNT1):c.977C>T (p.Pro326Leu)

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