ClinVar Miner

Variants in gene HCN4 with conflicting interpretations

See also:
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
1333 172 0 34 28 0 4 57

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 3 0 0
likely pathogenic 1 0 1 0 0
uncertain significance 3 1 0 28 9
likely benign 0 0 28 0 33
benign 0 0 9 33 0

All variants with conflicting interpretations #

Total variants: 57
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005477.3(HCN4):c.107G>A (p.Gly36Glu) rs143090627 0.04452
NM_005477.3(HCN4):c.1683C>A (p.Gly561=) rs62641690 0.01030
NM_005477.3(HCN4):c.3337A>G (p.Met1113Val) rs142735148 0.00983
NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg) rs148398509 0.00737
NM_005477.3(HCN4):c.2657C>T (p.Ala886Val) rs200575377 0.00352
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile) rs62641689 0.00258
NM_005477.3(HCN4):c.3587G>A (p.Arg1196His) rs147181577 0.00191
NM_005477.3(HCN4):c.3350C>T (p.Pro1117Leu) rs140402087 0.00185
NM_005477.3(HCN4):c.1978+3G>T rs113112855 0.00166
NM_005477.3(HCN4):c.1518C>T (p.Tyr506=) rs139590882 0.00163
NM_005477.3(HCN4):c.458A>G (p.Glu153Gly) rs560874115 0.00149
NM_005477.3(HCN4):c.1356C>T (p.Ser452=) rs148453034 0.00116
NM_005477.3(HCN4):c.3010C>T (p.Pro1004Ser) rs201418838 0.00084
NM_005477.3(HCN4):c.3577G>C (p.Glu1193Gln) rs200507617 0.00068
NM_005477.3(HCN4):c.2739G>A (p.Ala913=) rs373411041 0.00056
NM_005477.3(HCN4):c.1371+9G>A rs200303699 0.00048
NM_005477.3(HCN4):c.2800C>T (p.Arg934Cys) rs199638465 0.00045
NM_005477.3(HCN4):c.2181C>T (p.His727=) rs140354126 0.00036
NM_005477.3(HCN4):c.1656C>T (p.His552=) rs148142070 0.00029
NM_005477.3(HCN4):c.1536C>T (p.His512=) rs146306966 0.00024
NM_005477.3(HCN4):c.2109C>T (p.Phe703=) rs150378994 0.00021
NM_005477.3(HCN4):c.2313C>T (p.Pro771=) rs142298104 0.00016
NM_005477.3(HCN4):c.1738-6C>T rs760763085 0.00014
NM_005477.3(HCN4):c.2730C>A (p.Phe910Leu) rs200814534 0.00014
NM_005477.3(HCN4):c.2025C>T (p.Ala675=) rs149033101 0.00013
NM_005477.3(HCN4):c.2701G>A (p.Ala901Thr) rs201742383 0.00012
NM_005477.3(HCN4):c.621C>G (p.Arg207=) rs727503958 0.00012
NM_005477.3(HCN4):c.2522C>T (p.Ser841Leu) rs200546024 0.00011
NM_005477.3(HCN4):c.3117G>A (p.Pro1039=) rs749785521 0.00011
NM_005477.3(HCN4):c.584C>T (p.Ala195Val) rs201375192 0.00011
NM_005477.3(HCN4):c.3195C>A (p.Val1065=) rs4493011 0.00010
NM_005477.3(HCN4):c.1815G>A (p.Thr605=) rs367753936 0.00009
NM_005477.3(HCN4):c.3531G>T (p.Gly1177=) rs375911378 0.00008
NM_005477.3(HCN4):c.1243G>A (p.Val415Met) rs201978086 0.00007
NM_005477.3(HCN4):c.3009G>A (p.Pro1003=) rs775401682 0.00007
NM_005477.3(HCN4):c.1303C>T (p.Leu435=) rs746461789 0.00006
NM_005477.3(HCN4):c.2634C>G (p.Ser878=) rs748478312 0.00006
NM_005477.3(HCN4):c.1254C>T (p.Ile418=) rs373794941 0.00005
NM_005477.3(HCN4):c.2864C>T (p.Pro955Leu) rs371562763 0.00005
NM_005477.3(HCN4):c.2845C>T (p.Arg949Trp) rs755614529 0.00004
NM_005477.3(HCN4):c.3582A>G (p.Pro1194=) rs375637572 0.00004
NM_005477.3(HCN4):c.2830G>A (p.Ala944Thr) rs777648103 0.00003
NM_005477.3(HCN4):c.1443C>T (p.Tyr481=) rs200337785 0.00002
NM_005477.3(HCN4):c.1818C>T (p.Ser606=) rs1247778865 0.00002
NM_005477.3(HCN4):c.2370T>C (p.Ser790=) rs747648596 0.00002
NM_005477.3(HCN4):c.3264G>A (p.Ala1088=) rs752705479 0.00002
NM_005477.3(HCN4):c.1459G>A (p.Val487Met) rs202037304 0.00001
NM_005477.3(HCN4):c.1657G>A (p.Asp553Asn) rs104894485 0.00001
NM_005477.3(HCN4):c.2055C>T (p.Ser685=) rs886042819 0.00001
NM_005477.3(HCN4):c.2523G>A (p.Ser841=) rs768157473 0.00001
NM_005477.3(HCN4):c.1438G>A (p.Gly480Ser) rs121908411
NM_005477.3(HCN4):c.1444G>A (p.Gly482Arg) rs794727637
NM_005477.3(HCN4):c.1471G>A (p.Asp491Asn) rs1060500107
NM_005477.3(HCN4):c.1590G>C (p.Lys530Asn) rs1555475961
NM_005477.3(HCN4):c.2804C>T (p.Ser935Phe) rs775803239
NM_005477.3(HCN4):c.321C>T (p.Gly107=) rs1555479019
NM_005477.3(HCN4):c.785+18T>A rs1412056222

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