ClinVar Miner

Variants in gene KCNH1 with conflicting interpretations

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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
620 49 0 26 11 0 1 37

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
pathogenic 0 2 0 0 0
likely pathogenic 2 0 1 0 0
uncertain significance 0 1 0 8 4
likely benign 0 0 8 0 24
benign 0 0 4 24 0

All variants with conflicting interpretations #

Total variants: 37
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_172362.3(KCNH1):c.1911T>C (p.Ile637=) rs111629488 0.00446
NM_172362.3(KCNH1):c.1463-14C>G rs115279651 0.00329
NM_172362.3(KCNH1):c.2604G>A (p.Ala868=) rs1135318 0.00217
NM_172362.3(KCNH1):c.2455T>A (p.Ser819Thr) rs139659266 0.00174
NM_172362.3(KCNH1):c.2823C>T (p.Asn941=) rs143091808 0.00080
NM_172362.3(KCNH1):c.2768A>C (p.Gln923Pro) rs140939826 0.00058
NM_172362.3(KCNH1):c.79_79+3dup rs777147129 0.00053
NM_172362.3(KCNH1):c.2779C>G (p.Leu927Val) rs140435478 0.00026
NM_172362.3(KCNH1):c.2532C>T (p.Cys844=) rs200699122 0.00024
NM_172362.3(KCNH1):c.282C>T (p.Ser94=) rs138645753 0.00024
NM_172362.3(KCNH1):c.2661C>T (p.Ser887=) rs147411779 0.00023
NM_172362.3(KCNH1):c.2327C>G (p.Ala776Gly) rs138931464 0.00020
NM_172362.3(KCNH1):c.2276G>A (p.Arg759Gln) rs141905481 0.00019
NM_172362.3(KCNH1):c.251G>A (p.Arg84Gln) rs370185149 0.00009
NM_172362.3(KCNH1):c.2162T>C (p.Met721Thr) rs140043333 0.00008
NM_172362.3(KCNH1):c.2372G>A (p.Arg791His) rs139318016 0.00008
NM_172362.3(KCNH1):c.1740G>A (p.Pro580=) rs145789974 0.00005
NM_172362.3(KCNH1):c.2359G>A (p.Val787Met) rs377557048 0.00005
NM_172362.3(KCNH1):c.2434G>A (p.Ala812Thr) rs759775665 0.00005
NM_172362.3(KCNH1):c.544T>A (p.Ser182Thr) rs749800577 0.00004
NM_172362.3(KCNH1):c.882G>A (p.Thr294=) rs147778651 0.00004
NM_172362.3(KCNH1):c.2864T>A (p.Leu955His) rs895624409 0.00003
NM_172362.3(KCNH1):c.2054C>T (p.Thr685Met) rs1349830428 0.00001
NM_172362.3(KCNH1):c.2462G>A (p.Cys821Tyr) rs775759879 0.00001
NM_172362.3(KCNH1):c.1066G>A (p.Val356Ile) rs754172417
NM_172362.3(KCNH1):c.1069C>T (p.Arg357Trp) rs2102561827
NM_172362.3(KCNH1):c.1070G>A (p.Arg357Gln) rs886041300
NM_172362.3(KCNH1):c.1311A>G (p.Ser437=) rs569479235
NM_172362.3(KCNH1):c.1478C>A (p.Thr493Asn) rs1574266171
NM_172362.3(KCNH1):c.1797G>A (p.Thr599=) rs147586251
NM_172362.3(KCNH1):c.2414C>T (p.Thr805Ile)
NM_172362.3(KCNH1):c.2486G>A (p.Gly829Asp) rs759201321
NM_172362.3(KCNH1):c.2500C>T (p.Arg834Cys) rs1363207852
NM_172362.3(KCNH1):c.2962G>T (p.Ala988Ser) rs371262198
NM_172362.3(KCNH1):c.80-19dup rs56223346
NM_172362.3(KCNH1):c.80-6del rs56223346
NM_172362.3(KCNH1):c.80-7_80-6del rs56223346

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