ClinVar Miner

Variants in gene DNAH5 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
1529 200 2 41 62 0 7 108

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 2 14 3 0 0
likely pathogenic 14 0 4 0 0
uncertain significance 3 4 0 55 7
likely benign 0 0 55 0 27
benign 0 0 7 27 0

All variants with conflicting interpretations #

Total variants: 108
Download table as spreadsheet
HGVS dbSNP
NC_000005.10:g.13721172C>T
NM_001369.2(DNAH5):c.10044C>T (p.Pro3348=) rs369902800
NM_001369.2(DNAH5):c.10066T>C (p.Leu3356=) rs138441172
NM_001369.2(DNAH5):c.10323G>A (p.Met3441Ile) rs149133845
NM_001369.2(DNAH5):c.10347C>T (p.Ala3449=) rs150773884
NM_001369.2(DNAH5):c.10441C>T (p.Arg3481Ter) rs886039500
NM_001369.2(DNAH5):c.10815del (p.Pro3606fs) rs397515540
NM_001369.2(DNAH5):c.1090-8T>C rs16902950
NM_001369.2(DNAH5):c.11130T>C (p.Arg3710=) rs765391783
NM_001369.2(DNAH5):c.1121T>C (p.Ile374Thr) rs147499872
NM_001369.2(DNAH5):c.11376C>T (p.Ala3792=) rs755149967
NM_001369.2(DNAH5):c.11570+124G>C rs543104462
NM_001369.2(DNAH5):c.11974G>C (p.Asp3992His) rs143251480
NM_001369.2(DNAH5):c.1198G>A (p.Val400Met) rs144575803
NM_001369.2(DNAH5):c.12033+7A>C rs77541151
NM_001369.2(DNAH5):c.12105G>A (p.Thr4035=) rs199735129
NM_001369.2(DNAH5):c.12558C>T (p.Tyr4186=) rs748817131
NM_001369.2(DNAH5):c.12617G>A (p.Trp4206Ter) rs372118787
NM_001369.2(DNAH5):c.1290A>G (p.Glu430=) rs990691780
NM_001369.2(DNAH5):c.13005C>T (p.Thr4335=) rs755271975
NM_001369.2(DNAH5):c.13155A>T (p.Pro4385=) rs202103048
NM_001369.2(DNAH5):c.13194_13197del (p.Asp4398fs) rs727502971
NM_001369.2(DNAH5):c.1329G>A (p.Gln443=) rs141621142
NM_001369.2(DNAH5):c.13338+16C>T rs115271897
NM_001369.2(DNAH5):c.13458dup (p.Asn4487Ter) rs775696136
NM_001369.2(DNAH5):c.13569C>A (p.Asp4523Glu) rs151080414
NM_001369.2(DNAH5):c.1356G>A (p.Lys452=) rs144748846
NM_001369.2(DNAH5):c.1362A>G (p.Lys454=) rs371157628
NM_001369.2(DNAH5):c.1647C>G (p.Asn549Lys) rs139160176
NM_001369.2(DNAH5):c.1730G>C (p.Arg577Thr) rs397515541
NM_001369.2(DNAH5):c.1884G>A (p.Leu628=) rs534702284
NM_001369.2(DNAH5):c.2259+8A>G rs202137813
NM_001369.2(DNAH5):c.2578-10_2578-7del rs71600031
NM_001369.2(DNAH5):c.2578-9_2578-7del rs71600031
NM_001369.2(DNAH5):c.2683G>A (p.Glu895Lys) rs76229167
NM_001369.2(DNAH5):c.2891A>T (p.His964Leu) rs199698421
NM_001369.2(DNAH5):c.299G>C (p.Gly100Ala) rs144236383
NM_001369.2(DNAH5):c.3301G>A (p.Val1101Met) rs61747516
NM_001369.2(DNAH5):c.3514C>A (p.Gln1172Lys) rs141168110
NM_001369.2(DNAH5):c.360T>C (p.Asp120=) rs368412855
NM_001369.2(DNAH5):c.3734G>A (p.Arg1245His) rs77939839
NM_001369.2(DNAH5):c.3775G>A (p.Ala1259Thr) rs112217391
NM_001369.2(DNAH5):c.3777G>A (p.Ala1259=) rs144893234
NM_001369.2(DNAH5):c.378A>G (p.Val126=) rs377275027
NM_001369.2(DNAH5):c.3835-3del rs35398031
NM_001369.2(DNAH5):c.39C>T (p.Ser13=) rs370788337
NM_001369.2(DNAH5):c.4054-4T>C rs200608915
NM_001369.2(DNAH5):c.4331A>G (p.Asn1444Ser) rs567013299
NM_001369.2(DNAH5):c.4338C>G (p.Leu1446=) rs377432140
NM_001369.2(DNAH5):c.4361G>A (p.Arg1454Gln) rs542708170
NM_001369.2(DNAH5):c.4510G>C (p.Gly1504Arg) rs143567667
NM_001369.2(DNAH5):c.4525G>A (p.Val1509Met) rs140345677
NM_001369.2(DNAH5):c.4596+5A>C rs182677317
NM_001369.2(DNAH5):c.4689C>T (p.Gly1563=) rs375658702
NM_001369.2(DNAH5):c.4995C>T (p.Ile1665=) rs748438142
NM_001369.2(DNAH5):c.5281C>A (p.Arg1761=) rs148891849
NM_001369.2(DNAH5):c.5281C>G (p.Arg1761Gly) rs148891849
NM_001369.2(DNAH5):c.5503C>T (p.Gln1835Ter) rs761622153
NM_001369.2(DNAH5):c.5658C>T (p.Tyr1886=) rs6880264
NM_001369.2(DNAH5):c.6037C>T (p.Arg2013Ter) rs1273352530
NM_001369.2(DNAH5):c.6167A>T (p.Lys2056Ile) rs578128759
NM_001369.2(DNAH5):c.6249G>A (p.Met2083Ile) rs753614861
NM_001369.2(DNAH5):c.624C>T (p.Asn208=) rs139640247
NM_001369.2(DNAH5):c.6381C>T (p.Asn2127=) rs767344710
NM_001369.2(DNAH5):c.6579+20G>A rs115382993
NM_001369.2(DNAH5):c.660+9G>A rs762915801
NM_001369.2(DNAH5):c.6703T>G (p.Leu2235Val) rs115109673
NM_001369.2(DNAH5):c.6747C>T (p.Phe2249=) rs568499996
NM_001369.2(DNAH5):c.6763C>T (p.Arg2255Ter) rs745918507
NM_001369.2(DNAH5):c.6919G>A (p.Val2307Ile) rs74604638
NM_001369.2(DNAH5):c.7096C>T (p.Arg2366Trp) rs868151020
NM_001369.2(DNAH5):c.7515G>A (p.Glu2505=) rs1032671138
NM_001369.2(DNAH5):c.7525C>T (p.Arg2509Cys) rs531393117
NM_001369.2(DNAH5):c.7752+10T>C rs149460805
NM_001369.2(DNAH5):c.7752+3A>G rs200385399
NM_001369.2(DNAH5):c.7888-4A>G rs775268409
NM_001369.2(DNAH5):c.7998G>T (p.Glu2666Asp) rs148720124
NM_001369.2(DNAH5):c.8002G>A (p.Gly2668Arg) rs147236883
NM_001369.2(DNAH5):c.8190G>A (p.Thr2730=) rs752656841
NM_001369.2(DNAH5):c.8268A>C (p.Ser2756=) rs775185371
NM_001369.2(DNAH5):c.832del (p.Ala278fs) rs727502977
NM_001369.2(DNAH5):c.8396G>A (p.Arg2799Gln)
NM_001369.2(DNAH5):c.8642C>G (p.Ala2881Gly) rs727502973
NM_001369.2(DNAH5):c.8731A>G (p.Asn2911Asp) rs142852982
NM_001369.2(DNAH5):c.8757G>C (p.Glu2919Asp) rs115776799
NM_001369.2(DNAH5):c.8821-7A>G rs776228125
NM_001369.2(DNAH5):c.8845C>G (p.Gln2949Glu) rs147688221
NM_001369.2(DNAH5):c.894C>G (p.Asn298Lys) rs116995413
NM_001369.2(DNAH5):c.9111T>C (p.Ser3037=) rs765029802
NM_001369.2(DNAH5):c.9203A>G (p.Glu3068Gly) rs141571121
NM_001369.2(DNAH5):c.9213C>T (p.His3071=) rs563907105
NM_001369.2(DNAH5):c.9244C>A (p.Leu3082Ile) rs147372600
NM_001369.2(DNAH5):c.9355A>G (p.Lys3119Glu) rs76690956
NM_001369.2(DNAH5):c.9449del (p.Gly3150fs) rs727504802
NM_001369.2(DNAH5):c.946C>T (p.Leu316Phe) rs201706790
NM_001369.2(DNAH5):c.9549G>A (p.Gln3183=) rs147865593
NM_001369.2(DNAH5):c.962C>T (p.Ser321Leu) rs201077964
NM_001369.2(DNAH5):c.9637del (p.Ala3213fs) rs1305797678
NM_001369.2(DNAH5):c.9677C>T (p.Ala3226Val) rs192262838
NM_001369.2(DNAH5):c.9714C>T (p.Ala3238=) rs375561333
NM_001369.2(DNAH5):c.9751G>T (p.Ala3251Ser) rs139293893
NM_001369.2(DNAH5):c.9897+9A>G rs774932799
NM_001369.2(DNAH5):c.9941G>A (p.Arg3314His) rs143858741
NM_001369.3(DNAH5):c.12189G>A (p.Gly4063=)
NM_001369.3(DNAH5):c.2193C>T (p.Val731=)
NM_001369.3(DNAH5):c.5665_5666del (p.Leu1889fs) rs767779749
NM_001369.3(DNAH5):c.6308C>A (p.Ser2103Ter)
NM_001369.3(DNAH5):c.660+10A>G

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