ClinVar Miner

Variants in gene KCNT1 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 67
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HGVS dbSNP gnomAD frequency
NM_020822.3(KCNT1):c.99A>G (p.Gln33=) rs146152956 0.00323
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln) rs151272083 0.00162
NM_020822.3(KCNT1):c.3641G>A (p.Arg1214Gln) rs138282349 0.00128
NM_020822.3(KCNT1):c.2034C>T (p.Gly678=) rs369983077 0.00088
NM_020822.3(KCNT1):c.942C>T (p.Thr314=) rs144766991 0.00075
NM_020822.3(KCNT1):c.1726G>A (p.Glu576Lys) rs147306623 0.00048
NM_020822.3(KCNT1):c.885G>A (p.Ala295=) rs142756900 0.00036
NM_020822.3(KCNT1):c.522G>A (p.Met174Ile) rs147551342 0.00035
NM_020822.3(KCNT1):c.2214G>A (p.Pro738=) rs142424896 0.00026
NM_020822.3(KCNT1):c.1928G>A (p.Arg643Gln) rs141281093 0.00021
NM_020822.3(KCNT1):c.474G>A (p.Ser158=) rs139076605 0.00019
NM_020822.3(KCNT1):c.637G>A (p.Val213Ile) rs143536408 0.00018
NM_020822.3(KCNT1):c.867C>A (p.Ile289=) rs761045901 0.00018
NM_020822.3(KCNT1):c.2595-9C>T rs369966222 0.00015
NM_020822.3(KCNT1):c.1394C>T (p.Thr465Met) rs539139475 0.00014
NM_020822.3(KCNT1):c.3058C>T (p.Arg1020Cys) rs747605326 0.00014
NM_020822.3(KCNT1):c.1899G>A (p.Ser633=) rs371135108 0.00012
NM_020822.3(KCNT1):c.2217G>A (p.Ser739=) rs143678590 0.00011
NM_020822.3(KCNT1):c.1995C>T (p.Ile665=) rs757811625 0.00010
NM_020822.3(KCNT1):c.2008+10G>C rs752453368 0.00009
NM_020822.3(KCNT1):c.2052G>A (p.Thr684=) rs376314779 0.00009
NM_020822.3(KCNT1):c.981G>A (p.Ser327=) rs373317695 0.00009
NM_020822.3(KCNT1):c.1718G>A (p.Arg573His) rs575162600 0.00008
NM_020822.3(KCNT1):c.2674G>A (p.Glu892Lys) rs376757326 0.00006
NM_020822.3(KCNT1):c.3153G>A (p.Ser1051=) rs141802876 0.00006
NM_020822.3(KCNT1):c.3281C>T (p.Thr1094Met) rs373041291 0.00006
NM_020822.3(KCNT1):c.32G>A (p.Gly11Glu) rs1003586835 0.00006
NM_020822.3(KCNT1):c.3575C>T (p.Pro1192Leu) rs147654995 0.00006
NM_020822.3(KCNT1):c.408C>T (p.Leu136=) rs370046449 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.1996A>T (p.Ile666Phe) rs376231681 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.3152C>T (p.Ser1051Leu) rs375749415 0.00004
NM_020822.3(KCNT1):c.3289G>A (p.Gly1097Ser) rs199779214 0.00004
NM_020822.3(KCNT1):c.1110G>A (p.Thr370=) rs140367649 0.00003
NM_020822.3(KCNT1):c.1777G>A (p.Val593Met) rs779590747 0.00003
NM_020822.3(KCNT1):c.2050A>C (p.Thr684Pro) rs756570347 0.00003
NM_020822.3(KCNT1):c.2201A>G (p.Asp734Gly) rs1360863995 0.00003
NM_020822.3(KCNT1):c.3072C>T (p.Arg1024=) rs141695705 0.00003
NM_020822.3(KCNT1):c.3537C>T (p.Tyr1179=) rs149927148 0.00003
NM_020822.3(KCNT1):c.104C>T (p.Ala35Val) rs772080195 0.00002
NM_020822.3(KCNT1):c.1838G>A (p.Arg613Gln) rs571757257 0.00002
NM_020822.3(KCNT1):c.1927C>T (p.Arg643Trp) rs532620254 0.00002
NM_020822.3(KCNT1):c.2949C>T (p.Phe983=) rs764574987 0.00002
NM_020822.3(KCNT1):c.3196G>A (p.Val1066Met) rs553389226 0.00002
NM_020822.3(KCNT1):c.3244C>T (p.Arg1082Cys) rs776232246 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.1257C>G (p.Val419=) rs547714141 0.00001
NM_020822.3(KCNT1):c.1963G>A (p.Glu655Lys) rs770039542 0.00001
NM_020822.3(KCNT1):c.2059G>A (p.Gly687Ser) rs1156662870 0.00001
NM_020822.3(KCNT1):c.2062G>A (p.Gly688Ser) rs570983410 0.00001
NM_020822.3(KCNT1):c.2174G>C (p.Cys725Ser) rs756112023 0.00001
NM_020822.3(KCNT1):c.2594+6G>A rs973179248 0.00001
NM_020822.3(KCNT1):c.285C>T (p.Asn95=) rs558966732 0.00001
NM_020822.3(KCNT1):c.299G>A (p.Arg100Gln) rs752032951 0.00001
NM_020822.3(KCNT1):c.3100G>A (p.Ala1034Thr) rs779961735 0.00001
NM_020822.3(KCNT1):c.567G>A (p.Leu189=) rs372998864 0.00001
NM_020822.3(KCNT1):c.136C>T (p.Leu46Phe) rs869312682
NM_020822.3(KCNT1):c.1620-15_1620-5dup rs761464076
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.3174C>T (p.Ala1058=) rs2131577612
NM_020822.3(KCNT1):c.3217C>T (p.Arg1073Trp) rs768536067
Single allele

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