ClinVar Miner

Variants with conflicting interpretations studied for Progressive familial heart block type IB

Coded as:
Minimum review status of the submission for Progressive familial heart block type IB: Collection method of the submission for Progressive familial heart block type IB:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
1124 40 0 18 45 0 3 60

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.

All conditions
Progressive familial heart block type IB pathogenic uncertain significance likely benign benign
pathogenic 0 3 3 0
uncertain significance 3 0 34 14
likely benign 3 34 0 18
benign 0 14 18 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition 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
Progressive familial heart block type IB 1124 40 0 18 45 0 3 60

All variants with conflicting interpretations #

Total variants: 60
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017636.4(TRPM4):c.2934T>C (p.Ile978=) rs35516880 0.02629
NM_017636.4(TRPM4):c.449-10G>A rs78444754 0.02013
NM_017636.4(TRPM4):c.783G>A (p.Lys261=) rs111930830 0.01836
NM_017636.4(TRPM4):c.3082C>T (p.Leu1028=) rs79286201 0.01125
NM_017636.4(TRPM4):c.322C>T (p.Arg108Cys) rs115335683 0.01074
NM_017636.4(TRPM4):c.448+6C>T rs78051297 0.01005
NM_017636.4(TRPM4):c.2953+15G>A rs115274216 0.00850
NM_017636.4(TRPM4):c.2619C>T (p.Thr873=) rs144544237 0.00790
NM_017636.4(TRPM4):c.301G>A (p.Ala101Thr) rs113984787 0.00662
NM_017636.4(TRPM4):c.306T>G (p.Val102=) rs111783027 0.00662
NM_017636.4(TRPM4):c.755G>A (p.Arg252His) rs146564314 0.00453
NM_017636.4(TRPM4):c.618G>A (p.Ser206=) rs142788545 0.00422
NM_017636.4(TRPM4):c.870C>T (p.Asn290=) rs141997826 0.00389
NM_017636.4(TRPM4):c.1682A>C (p.Asp561Ala) rs56355369 0.00373
NM_017636.4(TRPM4):c.449-14C>T rs112328642 0.00356
NM_017636.4(TRPM4):c.3611C>T (p.Pro1204Leu) rs150391806 0.00310
NM_017636.4(TRPM4):c.1368C>G (p.Thr456=) rs56118173 0.00274
NM_017636.4(TRPM4):c.3427A>G (p.Ser1143Gly) rs138603244 0.00198
NM_017636.4(TRPM4):c.1575G>A (p.Trp525Ter) rs71352737 0.00168
NM_017636.4(TRPM4):c.2209G>A (p.Gly737Arg) rs145847114 0.00165
NM_017636.4(TRPM4):c.1873+13C>G rs184297107 0.00154
NM_017636.4(TRPM4):c.988G>A (p.Glu330Lys) rs145771389 0.00118
NM_017636.4(TRPM4):c.2561A>G (p.Gln854Arg) rs172155862 0.00078
NM_017636.4(TRPM4):c.2531G>A (p.Gly844Asp) rs200038418 0.00064
NM_017636.4(TRPM4):c.2674C>T (p.Arg892Cys) rs147854826 0.00047
NM_017636.4(TRPM4):c.1744G>A (p.Gly582Ser) rs172149856 0.00043
NM_017636.4(TRPM4):c.1294G>A (p.Ala432Thr) rs201907325 0.00042
NM_017636.4(TRPM4):c.2254C>T (p.Gln752Ter) rs769917929 0.00041
NM_017636.4(TRPM4):c.308A>G (p.Tyr103Cys) rs144781529 0.00041
NM_017636.4(TRPM4):c.1242T>C (p.Phe414=) rs200633475 0.00031
NM_017636.4(TRPM4):c.1836G>A (p.Arg612=) rs112589404 0.00023
NM_017636.4(TRPM4):c.748C>T (p.Arg250Cys) rs144208673 0.00021
NM_017636.4(TRPM4):c.1874-9C>T rs199805560 0.00020
NM_017636.4(TRPM4):c.742C>T (p.Arg248Cys) rs373749900 0.00014
NM_017636.4(TRPM4):c.2954-11T>C rs774806552 0.00011
NM_017636.4(TRPM4):c.2133-9C>G rs530013543 0.00009
NM_017636.4(TRPM4):c.2020-4A>C rs369498574 0.00008
NM_017636.4(TRPM4):c.2085C>T (p.Leu695=) rs781191851 0.00008
NM_017636.4(TRPM4):c.286C>T (p.Arg96Ter) rs148855956 0.00008
NM_017636.4(TRPM4):c.2779-5C>T rs374639233 0.00007
NM_017636.4(TRPM4):c.483C>T (p.Gly161=) rs147157308 0.00007
NM_017636.4(TRPM4):c.1873+4C>T rs746766318 0.00005
NM_017636.4(TRPM4):c.2712G>T (p.Val904=) rs143447932 0.00005
NM_017636.4(TRPM4):c.657C>T (p.Asp219=) rs373953725 0.00005
NM_017636.4(TRPM4):c.3377C>G (p.Ser1126Trp) rs567938424 0.00002
NM_017636.4(TRPM4):c.1473A>G (p.Leu491=) rs142739227 0.00001
NM_017636.4(TRPM4):c.2229G>A (p.Glu743=) rs745667706 0.00001
NM_017636.4(TRPM4):c.2231A>T (p.Lys744Met) rs569301210 0.00001
NM_017636.4(TRPM4):c.2403G>T (p.Leu801=) rs1455410186 0.00001
NM_017636.4(TRPM4):c.291G>A (p.Thr97=) rs886054576 0.00001
NM_017636.4(TRPM4):c.3489A>G (p.Gly1163=) rs760190293 0.00001
NM_017636.4(TRPM4):c.837T>C (p.Asp279=) rs373391017 0.00001
NM_017636.4(TRPM4):c.1843C>T (p.Leu615=) rs532994978
NM_017636.4(TRPM4):c.1908G>C (p.Val636=) rs950364050
NM_017636.4(TRPM4):c.2154A>C (p.Thr718=) rs370827464
NM_017636.4(TRPM4):c.2358C>T (p.Asn786=) rs886054579
NM_017636.4(TRPM4):c.243G>A (p.Thr81=) rs375928899
NM_017636.4(TRPM4):c.2529G>C (p.Gly843=) rs754769591
NM_017636.4(TRPM4):c.2987_3014del (p.Glu996fs) rs765535147
NM_017636.4(TRPM4):c.92+12G>A rs377431946

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