ClinVar Miner

Variants in gene DNAH1 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
2062 71 0 23 9 0 1 33

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 3 1 0 0
likely pathogenic 3 0 0 0 0
uncertain significance 1 0 0 9 0
likely benign 0 0 9 0 20
benign 0 0 0 20 0

All variants with conflicting interpretations #

Total variants: 33
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015512.5(DNAH1):c.11230C>T (p.Arg3744Cys) rs419752 0.03813
NM_015512.5(DNAH1):c.1321G>C (p.Val441Leu) rs13060192 0.03637
NM_015512.5(DNAH1):c.4531G>A (p.Val1511Met) rs61734638 0.01825
NM_015512.5(DNAH1):c.7569C>T (p.Ser2523=) rs73072968 0.01641
NM_015512.5(DNAH1):c.3090G>A (p.Ala1030=) rs140275399 0.00355
NM_015512.5(DNAH1):c.2204G>A (p.Ser735Asn) rs187636110 0.00334
NM_015512.5(DNAH1):c.872-15C>T rs143657729 0.00315
NM_015512.5(DNAH1):c.11788-14C>T rs141567808 0.00310
NM_015512.5(DNAH1):c.12375A>T (p.Thr4125=) rs61734637 0.00310
NM_015512.5(DNAH1):c.10422T>C (p.Leu3474=) rs148913561 0.00302
NM_015512.5(DNAH1):c.2744A>G (p.Asn915Ser) rs61734643 0.00302
NM_015512.5(DNAH1):c.4263C>T (p.Pro1421=) rs61739897 0.00300
NM_015512.5(DNAH1):c.1286+16G>A rs190176840 0.00289
NM_015512.5(DNAH1):c.4365C>T (p.Ala1455=) rs185313035 0.00218
NM_015512.5(DNAH1):c.7143C>G (p.Ile2381Met) rs144580984 0.00215
NM_015512.5(DNAH1):c.5669G>T (p.Gly1890Val) rs200859252 0.00190
NM_015512.5(DNAH1):c.10852T>C (p.Tyr3618His) rs199603472 0.00121
NM_015512.5(DNAH1):c.9343C>T (p.Arg3115Trp) rs185397176 0.00109
NM_015512.5(DNAH1):c.10438A>G (p.Ile3480Val) rs143443167 0.00104
NM_015512.5(DNAH1):c.1351A>G (p.Lys451Glu) rs76591348 0.00103
NM_015512.5(DNAH1):c.8885A>C (p.Lys2962Thr) rs199602894 0.00048
NM_015512.5(DNAH1):c.3202G>A (p.Val1068Met) rs201455697 0.00041
NM_015512.5(DNAH1):c.9302A>G (p.Lys3101Arg) rs199884450 0.00025
NM_015512.5(DNAH1):c.6411C>T (p.Asn2137=) rs372595174 0.00023
NM_015512.5(DNAH1):c.5332-14G>A rs375828810 0.00022
NM_015512.5(DNAH1):c.6212T>G (p.Leu2071Arg) rs757396103 0.00018
NM_015512.5(DNAH1):c.7410C>T (p.His2470=) rs376198165 0.00014
NM_015512.5(DNAH1):c.3432C>T (p.Ser1144=) rs534534857 0.00013
NM_015512.5(DNAH1):c.6293G>A (p.Arg2098His) rs373906923 0.00006
NM_015512.5(DNAH1):c.10636C>T (p.Arg3546Ter) rs200416242 0.00005
NM_015512.5(DNAH1):c.1969C>G (p.Pro657Ala) rs199996069 0.00004
NM_015512.5(DNAH1):c.7864C>T (p.Arg2622Ter) rs368033879 0.00002
NM_015512.5(DNAH1):c.7676del (p.Val2559fs) rs765417610 0.00001

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