ClinVar Miner

Variants in gene KCNH2 with conflicting interpretations

Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
1712 93 0 45 23 1 16 73

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 0 15 6 0 0 0
likely pathogenic 15 0 12 0 0 0
uncertain significance 6 12 0 22 8 1
likely benign 0 0 22 0 30 1
benign 0 0 8 30 0 0
risk factor 0 0 1 1 0 0

All variants with conflicting interpretations #

Total variants: 73
Download table as spreadsheet
HGVS dbSNP
NM_000238.3(KCNH2):c.2453C>T (p.Ser818Leu) rs121912510
NM_000238.3(KCNH2):c.2617G>A (p.Gly873Ser) rs41314354
NM_000238.3(KCNH2):c.2660G>A (p.Arg887His) rs199473432
NM_000238.3(KCNH2):c.2692+8G>A rs200032281
NM_000238.3(KCNH2):c.2863C>G (p.Leu955Val) rs199473012
NM_000238.3(KCNH2):c.3125T>C (p.Leu1042Pro) rs886039064
NM_000238.3(KCNH2):c.3133C>T (p.Leu1045Phe) rs199473025
NM_000238.3(KCNH2):c.3140G>T (p.Arg1047Leu) rs36210421
NM_000238.3(KCNH2):c.3153-4C>T rs181119727
NM_000238.3(KCNH2):c.3164G>A (p.Arg1055Gln) rs41307270
NM_000238.3(KCNH2):c.3436A>T (p.Thr1146Ser) rs778879572
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684
NM_000238.4(KCNH2):c.1129-18C>T
NM_000238.4(KCNH2):c.1563C>T (p.Ile521=) rs143011005
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428
NM_000238.4(KCNH2):c.2246G>T (p.Gly749Val) rs199472989
NM_000238.4(KCNH2):c.2254C>T (p.Arg752Trp) rs199472990
NM_000238.4(KCNH2):c.2414T>G (p.Phe805Cys) rs199472999
NM_000238.4(KCNH2):c.2454G>A (p.Ser818=) rs72549418
NM_000238.4(KCNH2):c.2467C>T (p.Arg823Trp) rs199473538
NM_000238.4(KCNH2):c.2674C>T (p.Arg892Cys) rs201627778
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val) rs77331749
NM_000238.4(KCNH2):c.2750C>T (p.Pro917Leu) rs76420733
NM_000238.4(KCNH2):c.2771G>A (p.Gly924Glu) rs199473009
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His) rs199473011
NM_000238.4(KCNH2):c.2860C>T (p.Arg954Cys) rs141401803
NM_000238.4(KCNH2):c.2904G>A (p.Pro968=) rs75005975
NM_000238.4(KCNH2):c.2948C>T (p.Thr983Ile) rs149955375
NM_000238.4(KCNH2):c.3111C>T (p.Asp1037=) rs200799870
NM_000238.4(KCNH2):c.3331-13GT[2] rs41313749
NM_000238.4(KCNH2):c.3348G>A (p.Ala1116=) rs376180501
NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu) rs199472864
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp) rs139544114
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) rs36210422
NM_000238.4(KCNH2):c.551GCGCGGGCG[1] (p.184GAG[1]) rs551056698
NM_172056.2(KCNH2):c.1056C>T (p.Pro352=) rs1554427342
NM_172056.2(KCNH2):c.1320G>T (p.Pro440=) rs144926928
NM_172056.2(KCNH2):c.1332G>A (p.Glu444=) rs9770044
NM_172056.2(KCNH2):c.1353G>A (p.Pro451=) rs763446458
NM_172056.2(KCNH2):c.1496T>G (p.Leu499Arg) rs794728370
NM_172056.2(KCNH2):c.1501G>A (p.Asp501Asn) rs199472912
NM_172056.2(KCNH2):c.1528C>T (p.Leu510=) rs75648145
NM_172056.2(KCNH2):c.1558-5C>T rs114186001
NM_172056.2(KCNH2):c.1581G>A (p.Ala527=) rs150275982
NM_172056.2(KCNH2):c.1635C>T (p.Tyr545=) rs200692436
NM_172056.2(KCNH2):c.1641G>A (p.Ala547=) rs149902084
NM_172056.2(KCNH2):c.1800C>T (p.Ser600=) rs143518632
NM_172056.2(KCNH2):c.1838C>T (p.Thr613Met) rs199473524
NM_172056.2(KCNH2):c.1849T>C (p.Phe617Leu) rs796052195
NM_172056.2(KCNH2):c.1882G>A (p.Gly628Ser) rs121912507
NM_172056.2(KCNH2):c.1888G>A (p.Val630Ile) rs199472958
NM_172056.2(KCNH2):c.188C>A (p.Pro63His) rs766379103
NM_172056.2(KCNH2):c.1894C>T (p.Pro632Ser) rs199473527
NM_172056.2(KCNH2):c.1898A>G (p.Asn633Ser) rs199472961
NM_172056.2(KCNH2):c.1979C>T (p.Ser660Leu) rs199472979
NM_172056.2(KCNH2):c.215C>A (p.Pro72Gln) rs199473421
NM_172056.2(KCNH2):c.2255G>A (p.Arg752Gln) rs121912512
NM_172056.2(KCNH2):c.2331C>T (p.Thr777=) rs41307292
NM_172056.2(KCNH2):c.2371C>T (p.Arg791Trp) rs138498207
NM_172056.2(KCNH2):c.2390C>A (p.Ala797Asp) rs794728389
NM_172056.2(KCNH2):c.2403G>T (p.Met801Ile) rs1554425149
NM_172056.2(KCNH2):c.2414C>T (p.Ala805Val) rs201873431
NM_172056.2(KCNH2):c.2503del (p.Leu835fs) rs546898924
NM_172056.2(KCNH2):c.298C>G (p.Arg100Gly) rs121912515
NM_172056.2(KCNH2):c.51C>G (p.Thr17=) rs144338227
NM_172056.2(KCNH2):c.542G>A (p.Arg181Gln) rs41308954
NM_172056.2(KCNH2):c.558C>T (p.Gly186=) rs139533994
NM_172056.2(KCNH2):c.568G>A (p.Ala190Thr) rs150817714
NM_172056.2(KCNH2):c.621C>T (p.Ser207=) rs41314417
NM_172056.2(KCNH2):c.66dup (p.Glu23Ter) rs1554431441
NM_172056.2(KCNH2):c.77-5C>T rs72549419
NM_172056.2(KCNH2):c.982C>T (p.Arg328Cys) rs199473505
NM_172056.2(KCNH2):c.98A>C (p.Asn33Thr) rs199473487

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