ClinVar Miner

Variants with conflicting interpretations studied for DNAH9-related condition

Minimum review status of the submission for DNAH9-related condition: Collection method of the submission for DNAH9-related condition:
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
29 105 0 28 6 0 0 34

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
DNAH9-related condition pathogenic uncertain significance likely benign benign
likely pathogenic 3 0 0 0
uncertain significance 0 0 1 2
likely benign 0 3 0 19
benign 0 0 6 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
not provided 0 105 0 28 6 0 0 34

All variants with conflicting interpretations #

Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001372.4(DNAH9):c.10555C>A (p.Pro3519Thr) rs148325223 0.00641
NM_001372.4(DNAH9):c.8414G>A (p.Arg2805His) rs61740362 0.00407
NM_001372.4(DNAH9):c.8715C>T (p.Ile2905=) rs62060898 0.00339
NM_001372.4(DNAH9):c.11921A>T (p.Lys3974Met) rs111574749 0.00292
NM_001372.4(DNAH9):c.9066C>T (p.Val3022=) rs34595876 0.00272
NM_001372.4(DNAH9):c.13327C>T (p.Arg4443Cys) rs9913494 0.00228
NM_001372.4(DNAH9):c.10070C>T (p.Ser3357Phe) rs146871107 0.00214
NM_001372.4(DNAH9):c.1796C>T (p.Pro599Leu) rs141077864 0.00212
NM_001372.4(DNAH9):c.6297C>T (p.Pro2099=) rs143732515 0.00189
NM_001372.4(DNAH9):c.12640G>T (p.Gly4214Cys) rs144547132 0.00180
NM_001372.4(DNAH9):c.10854G>A (p.Thr3618=) rs147799113 0.00152
NM_001372.4(DNAH9):c.12835G>A (p.Gly4279Ser) rs78845357 0.00150
NM_001372.4(DNAH9):c.10912A>G (p.Thr3638Ala) rs149029050 0.00137
NM_001372.4(DNAH9):c.10845C>T (p.Thr3615=) rs144408069 0.00136
NM_001372.4(DNAH9):c.4377C>T (p.Val1459=) rs145085168 0.00118
NM_001372.4(DNAH9):c.2295G>A (p.Leu765=) rs146934895 0.00089
NM_001372.4(DNAH9):c.6120C>T (p.Tyr2040=) rs138108837 0.00085
NM_001372.4(DNAH9):c.11057A>G (p.Tyr3686Cys) rs145752160 0.00083
NM_001372.4(DNAH9):c.6377C>T (p.Ala2126Val) rs143162500 0.00081
NM_001372.4(DNAH9):c.5961G>A (p.Lys1987=) rs61744691 0.00072
NM_001372.4(DNAH9):c.10853C>T (p.Thr3618Met) rs201246193 0.00011
NM_001372.4(DNAH9):c.4295G>A (p.Gly1432Asp) rs200329184 0.00008
NM_001372.4(DNAH9):c.1252T>G (p.Tyr418Asp) rs529230683 0.00001
NM_001372.4(DNAH9):c.10764C>T (p.Ala3588=)
NM_001372.4(DNAH9):c.12193C>T (p.Arg4065Ter)
NM_001372.4(DNAH9):c.1733del (p.Leu578fs)
NM_001372.4(DNAH9):c.4098G>A (p.Thr1366=) rs144808055
NM_001372.4(DNAH9):c.4247A>G (p.Tyr1416Cys)
NM_001372.4(DNAH9):c.44_68dup (p.Arg24fs) rs761517350
NM_001372.4(DNAH9):c.4995_4998del (p.Phe1666fs)
NM_001372.4(DNAH9):c.6402G>A (p.Val2134=)
NM_001372.4(DNAH9):c.6847+5G>A
NM_001372.4(DNAH9):c.69A>C (p.Arg23=)
NM_001372.4(DNAH9):c.9931G>A (p.Ala3311Thr)

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