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
1420 173 0 67 25 0 10 92

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 11 5 0 0
likely pathogenic 11 0 7 1 1
uncertain significance 5 7 0 21 9
likely benign 0 1 21 0 56
benign 0 1 9 56 0

All variants with conflicting interpretations #

Total variants: 92
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 0.02391
NM_002470.4(MYH3):c.6T>C (p.Ser2=) rs17817203 0.02215
NM_002470.4(MYH3):c.3008C>T (p.Ala1003Val) rs34088014 0.02195
NM_002470.4(MYH3):c.4155A>G (p.Glu1385=) rs58343499 0.02068
NM_002470.4(MYH3):c.3938C>T (p.Thr1313Ile) rs35230241 0.02011
NM_002470.4(MYH3):c.4647+27G>A rs73281077 0.01783
NM_002470.4(MYH3):c.4128C>T (p.Tyr1376=) rs112569418 0.01520
NM_002470.4(MYH3):c.699C>T (p.Asn233=) rs16943604 0.01272
NM_002470.4(MYH3):c.349-7C>T rs114366800 0.01261
NM_002470.4(MYH3):c.3009G>A (p.Ala1003=) rs61735353 0.01191
NM_002470.4(MYH3):c.774G>A (p.Lys258=) rs16943598 0.00793
NM_002470.4(MYH3):c.3726T>C (p.Ser1242=) rs77946261 0.00740
NM_002470.4(MYH3):c.3592G>A (p.Ala1198Thr) rs61735358 0.00641
NM_002470.4(MYH3):c.453C>T (p.Ala151=) rs7214436 0.00579
NM_002470.4(MYH3):c.4356+11C>T rs150348272 0.00505
NM_002470.4(MYH3):c.1575C>T (p.Ile525=) rs34695778 0.00488
NM_002470.4(MYH3):c.690C>G (p.Ala230=) rs147148934 0.00438
NM_002470.4(MYH3):c.4172+9C>T rs116028239 0.00364
NM_002470.4(MYH3):c.2683-4T>C rs182229640 0.00328
NM_002470.4(MYH3):c.4910C>T (p.Ala1637Val) rs34165480 0.00309
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.1566C>A (p.Ile522=) rs146873206 0.00236
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 0.00182
NM_002470.4(MYH3):c.3078C>T (p.Ser1026=) rs146309217 0.00158
NM_002470.4(MYH3):c.5390G>A (p.Arg1797His) rs138194008 0.00152
NM_002470.4(MYH3):c.252G>A (p.Lys84=) rs147410236 0.00151
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 0.00092
NM_002470.4(MYH3):c.642+10G>A rs183463746 0.00086
NM_002470.4(MYH3):c.736-6A>G rs372079063 0.00067
NM_002470.4(MYH3):c.875C>G (p.Ser292Cys) rs139480342 0.00064
NM_002470.4(MYH3):c.3612T>C (p.Leu1204=) rs146773743 0.00061
NM_002470.4(MYH3):c.2683-14C>A rs202129717 0.00056
NM_002470.4(MYH3):c.3731C>T (p.Ala1244Val) rs140074626 0.00052
NM_002470.4(MYH3):c.1722C>T (p.Ala574=) rs149880049 0.00042
NM_002470.4(MYH3):c.1350G>A (p.Thr450=) rs141874357 0.00036
NM_002470.4(MYH3):c.3729+9C>T rs201955505 0.00036
NM_002470.4(MYH3):c.376G>C (p.Val126Leu) rs201787435 0.00029
NM_002470.4(MYH3):c.5274G>A (p.Lys1758=) rs377092561 0.00028
NM_002470.4(MYH3):c.3719C>T (p.Ser1240Leu) rs551363957 0.00023
NM_002470.4(MYH3):c.4324G>A (p.Ala1442Thr) rs201602783 0.00021
NM_002470.4(MYH3):c.3462G>A (p.Ala1154=) rs201553125 0.00013
NM_002470.4(MYH3):c.3535C>G (p.Leu1179Val) rs375904355 0.00013
NM_002470.4(MYH3):c.208C>T (p.Leu70=) rs779700642 0.00011
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.1002C>T (p.Asp334=) rs764425505 0.00007
NM_002470.4(MYH3):c.5797-12C>G rs374799651 0.00006
NM_002470.4(MYH3):c.21G>A (p.Met7Ile) rs748436283 0.00003
NM_002470.4(MYH3):c.593C>T (p.Thr198Ile) rs750773513 0.00003
NM_002470.4(MYH3):c.375T>C (p.Thr125=) rs762734569 0.00002
NM_002470.4(MYH3):c.1260+18G>A rs771181525 0.00001
NM_002470.4(MYH3):c.4525G>T (p.Glu1509Ter) rs2074186150 0.00001
NM_002470.4(MYH3):c.4801G>A (p.Ala1601Thr) rs764578014 0.00001
NM_002470.4(MYH3):c.5198C>A (p.Thr1733Lys) rs539740208 0.00001
NM_002470.4(MYH3):c.5458-3_5458-2dup rs759071057 0.00001
NM_002470.4(MYH3):c.700G>A (p.Ala234Thr) rs121913623 0.00001
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.245C>T (p.Pro82Leu) rs2508647548
NM_002470.4(MYH3):c.2500TTC[1] (p.Phe835del) rs2508601282
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.4726_4729del (p.Lys1576fs) rs765511273
NM_002470.4(MYH3):c.5250G>A (p.Arg1750=) rs1377740859
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.5658+3_5658+6del rs2142377032
NM_002470.4(MYH3):c.5796+32del rs147333978
NM_002470.4(MYH3):c.724TCC[1] (p.Ser243del) rs1555527166
NM_002470.4(MYH3):c.859T>G (p.Phe287Val) rs1567560080
NM_002470.4(MYH3):c.998C>G (p.Thr333Arg) rs1567559562

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