ClinVar Miner

Variants in gene MYH3 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
1246 108 0 61 19 0 7 78

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 9 4 0 0
likely pathogenic 9 0 5 1 1
uncertain significance 4 5 0 17 6
likely benign 0 1 17 0 52
benign 0 1 6 52 0

All variants with conflicting interpretations #

Total variants: 78
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002470.4(MYH3):c.5457+9dup rs397750512 0.58793
NM_002470.4(MYH3):c.349-36A>G rs2285467 0.12931
NM_002470.4(MYH3):c.2106C>T (p.Gly702=) rs56259391 0.05968
NM_002470.4(MYH3):c.2610A>G (p.Lys870=) rs56163389 0.05967
NM_002470.4(MYH3):c.5160+30G>T rs73976871 0.03891
NM_002470.4(MYH3):c.5457+3G>A rs200954595 0.02449
NM_002470.4(MYH3):c.6T>C (p.Ser2=) rs17817203 0.02219
NM_002470.4(MYH3):c.3008C>T (p.Ala1003Val) rs34088014 0.02195
NM_002470.4(MYH3):c.4155A>G (p.Glu1385=) rs58343499 0.02173
NM_002470.4(MYH3):c.3938C>T (p.Thr1313Ile) rs35230241 0.02138
NM_002470.4(MYH3):c.4647+27G>A rs73281077 0.01783
NM_002470.4(MYH3):c.4128C>T (p.Tyr1376=) rs112569418 0.01571
NM_002470.4(MYH3):c.699C>T (p.Asn233=) rs16943604 0.01272
NM_002470.4(MYH3):c.3009G>A (p.Ala1003=) rs61735353 0.01244
NM_002470.4(MYH3):c.3726T>C (p.Ser1242=) rs77946261 0.00792
NM_002470.4(MYH3):c.3592G>A (p.Ala1198Thr) rs61735358 0.00641
NM_002470.4(MYH3):c.453C>T (p.Ala151=) rs7214436 0.00621
NM_002470.4(MYH3):c.1575C>T (p.Ile525=) rs34695778 0.00528
NM_002470.4(MYH3):c.4356+11C>T rs150348272 0.00505
NM_002470.4(MYH3):c.690C>G (p.Ala230=) rs147148934 0.00421
NM_002470.4(MYH3):c.4172+9C>T rs116028239 0.00364
NM_002470.4(MYH3):c.2683-4T>C rs182229640 0.00350
NM_002470.4(MYH3):c.4910C>T (p.Ala1637Val) rs34165480 0.00311
NM_002470.4(MYH3):c.2926-8C>T rs188588330 0.00296
NM_002470.4(MYH3):c.4098T>C (p.Asn1366=) rs138944611 0.00291
NM_002470.4(MYH3):c.4137C>T (p.Asp1379=) rs146070094 0.00291
NM_002470.4(MYH3):c.3594G>A (p.Ala1198=) rs139978727 0.00252
NM_002470.4(MYH3):c.5109G>A (p.Ala1703=) rs114770362 0.00250
NM_002470.4(MYH3):c.3409C>T (p.Arg1137Cys) rs12941197 0.00245
NM_002470.4(MYH3):c.1411T>C (p.Tyr471His) rs115742228 0.00227
NM_002470.4(MYH3):c.5067G>T (p.Leu1689=) rs112858125 0.00205
NM_002470.4(MYH3):c.1932C>T (p.Ser644=) rs115612890 0.00194
NM_002470.4(MYH3):c.3078C>T (p.Ser1026=) rs146309217 0.00158
NM_002470.4(MYH3):c.252G>A (p.Lys84=) rs147410236 0.00156
NM_002470.4(MYH3):c.5390G>A (p.Arg1797His) rs138194008 0.00152
NM_002470.4(MYH3):c.3479C>T (p.Thr1160Met) rs145080512 0.00137
NM_002470.4(MYH3):c.-9+1G>A rs557849165 0.00117
NM_002470.4(MYH3):c.4082C>T (p.Ala1361Val) rs140218185 0.00096
NM_002470.4(MYH3):c.642+10G>A rs183463746 0.00092
NM_002470.4(MYH3):c.875C>G (p.Ser292Cys) rs139480342 0.00068
NM_002470.4(MYH3):c.736-6A>G rs372079063 0.00067
NM_002470.4(MYH3):c.3612T>C (p.Leu1204=) rs146773743 0.00063
NM_002470.4(MYH3):c.2683-14C>A rs202129717 0.00056
NM_002470.4(MYH3):c.3731C>T (p.Ala1244Val) rs140074626 0.00054
NM_002470.4(MYH3):c.1722C>T (p.Ala574=) rs149880049 0.00042
NM_002470.4(MYH3):c.1350G>A (p.Thr450=) rs141874357 0.00039
NM_002470.4(MYH3):c.3729+9C>T rs201955505 0.00035
NM_002470.4(MYH3):c.376G>C (p.Val126Leu) rs201787435 0.00029
NM_002470.4(MYH3):c.4324G>A (p.Ala1442Thr) rs201602783 0.00021
NM_002470.4(MYH3):c.208C>T (p.Leu70=) rs779700642 0.00012
NM_002470.4(MYH3):c.5074A>G (p.Thr1692Ala) rs140180067 0.00010
NM_002470.4(MYH3):c.4987C>T (p.Arg1663Trp) rs777159320 0.00008
NM_002470.4(MYH3):c.3462G>A (p.Ala1154=) rs201553125 0.00006
NM_002470.4(MYH3):c.593C>T (p.Thr198Ile) rs750773513 0.00003
NM_002470.4(MYH3):c.5198C>A (p.Thr1733Lys) rs539740208 0.00002
NM_002470.4(MYH3):c.1260+18G>A rs771181525 0.00001
NM_002470.4(MYH3):c.375T>C (p.Thr125=) rs762734569 0.00001
NM_002470.4(MYH3):c.4801G>A (p.Ala1601Thr) rs764578014 0.00001
NM_002470.4(MYH3):c.1002C>T (p.Asp334=)
NM_002470.4(MYH3):c.1123G>A (p.Glu375Lys) rs121913621
NM_002470.4(MYH3):c.1385A>G (p.Asp462Gly) rs121913622
NM_002470.4(MYH3):c.1960-17dup rs3216884
NM_002470.4(MYH3):c.1960-8del rs3216884
NM_002470.4(MYH3):c.2015G>A (p.Arg672His) rs121913617
NM_002470.4(MYH3):c.2776_2779del (p.Arg926fs) rs766768674
NM_002470.4(MYH3):c.3445G>C (p.Glu1149Gln) rs145785711
NM_002470.4(MYH3):c.3568_3576del (p.Val1190_Ala1192del) rs2142395389
NM_002470.4(MYH3):c.3611T>C (p.Leu1204Pro) rs1057518008
NM_002470.4(MYH3):c.4031T>C (p.Leu1344Pro) rs1567553806
NM_002470.4(MYH3):c.4522C>T (p.Gln1508Ter) rs779530750
NM_002470.4(MYH3):c.4525G>T (p.Glu1509Ter)
NM_002470.4(MYH3):c.4726_4729del (p.Lys1576fs)
NM_002470.4(MYH3):c.5254G>A (p.Ala1752Thr) rs34393601
NM_002470.4(MYH3):c.5254G>T (p.Ala1752Ser) rs34393601
NM_002470.4(MYH3):c.5796+32del rs147333978
NM_002470.4(MYH3):c.859T>G (p.Phe287Val) rs1567560080
NM_002470.4(MYH3):c.998C>G (p.Thr333Arg) rs1567559562

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.