ClinVar Miner

Variants in gene HCN4 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 Variants with at least 2 submissions 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 kind of conflict
246 76 0 13 20 0 4 31

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 1 2 1 0
likely pathogenic 1 0 0 1 1
uncertain significance 2 0 0 18 7
likely benign 1 1 18 0 12
benign 0 1 7 12 0

All variants with conflicting interpretations #

Total variants: 31
Download table as spreadsheet
HGVS dbSNP
NM_005477.2(HCN4):c.1209_1209+1insGTGA rs786205418
NM_005477.2(HCN4):c.1356C>T (p.Ser452=) rs148453034
NM_005477.2(HCN4):c.1371+9G>A rs200303699
NM_005477.2(HCN4):c.1441T>C (p.Tyr481His) rs1057519275
NM_005477.2(HCN4):c.1443C>T (p.Tyr481=) rs200337785
NM_005477.2(HCN4):c.1444G>A (p.Gly482Arg) rs794727637
NM_005477.2(HCN4):c.1459G>A (p.Val487Met) rs202037304
NM_005477.2(HCN4):c.1518C>T (p.Tyr506=) rs139590882
NM_005477.2(HCN4):c.1536C>T (p.His512=) rs146306966
NM_005477.2(HCN4):c.1653C>A (p.Ile551=) rs141966309
NM_005477.2(HCN4):c.1703G>C (p.Ser568Thr) rs138714806
NM_005477.2(HCN4):c.1722C>T (p.Ser574=) rs750941501
NM_005477.2(HCN4):c.1815G>A (p.Thr605=) rs367753936
NM_005477.2(HCN4):c.1978+3G>T rs113112855
NM_005477.2(HCN4):c.2181C>T (p.His727=) rs140354126
NM_005477.2(HCN4):c.2210A>G (p.Gln737Arg) rs146732972
NM_005477.2(HCN4):c.2275G>A (p.Val759Ile) rs62641689
NM_005477.2(HCN4):c.2522C>T (p.Ser841Leu) rs200546024
NM_005477.2(HCN4):c.2523G>A (p.Ser841=) rs768157473
NM_005477.2(HCN4):c.2657C>T (p.Ala886Val) rs200575377
NM_005477.2(HCN4):c.2701G>A (p.Ala901Thr) rs201742383
NM_005477.2(HCN4):c.2739G>A (p.Ala913=) rs373411041
NM_005477.2(HCN4):c.2800C>T (p.Arg934Cys) rs199638465
NM_005477.2(HCN4):c.2804C>T (p.Ser935Phe) rs775803239
NM_005477.2(HCN4):c.3010C>T (p.Pro1004Ser) rs201418838
NM_005477.2(HCN4):c.3117G>A (p.Pro1039=) rs749785521
NM_005477.2(HCN4):c.3350C>T (p.Pro1117Leu) rs140402087
NM_005477.2(HCN4):c.3577G>C (p.Glu1193Gln) rs200507617
NM_005477.2(HCN4):c.3587G>A (p.Arg1196His) rs147181577
NM_005477.2(HCN4):c.458A>G (p.Glu153Gly) rs560874115
NM_005477.2(HCN4):c.621C>G (p.Arg207=) rs727503958

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