ClinVar Miner

Variants in gene NDUFS1 with conflicting interpretations

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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
353 37 0 10 8 0 2 19

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 2 1 0 0
likely pathogenic 2 0 1 0 0
uncertain significance 1 1 0 7 2
likely benign 0 0 7 0 8
benign 0 0 2 8 0

All variants with conflicting interpretations #

Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005006.7(NDUFS1):c.1251A>G (p.Arg417=) rs1801318 0.34874
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val) rs78042826 0.00353
NM_005006.7(NDUFS1):c.421-7A>G rs192949406 0.00292
NM_005006.7(NDUFS1):c.1262+17A>G rs144695826 0.00268
NM_005006.7(NDUFS1):c.611T>C (p.Met204Thr) rs148544177 0.00172
NM_005006.7(NDUFS1):c.529A>G (p.Ile177Val) rs140126185 0.00047
NM_005006.7(NDUFS1):c.1516G>A (p.Val506Ile) rs137889316 0.00034
NM_005006.7(NDUFS1):c.1600G>A (p.Val534Met) rs201806038 0.00031
NM_005006.7(NDUFS1):c.1029T>G (p.Gly343=) rs72944827 0.00021
NM_005006.7(NDUFS1):c.738-20A>G rs200128097 0.00019
NM_005006.7(NDUFS1):c.683T>C (p.Val228Ala) rs370411488 0.00012
NM_005006.7(NDUFS1):c.1393-2A>C rs370009373 0.00007
NM_005006.7(NDUFS1):c.1699A>G (p.Ile567Val) rs147685849 0.00005
NM_005006.7(NDUFS1):c.502T>C (p.Leu168=) rs759656684 0.00002
NM_005006.7(NDUFS1):c.1222C>T (p.Arg408Cys) rs149271416 0.00001
NM_005006.7(NDUFS1):c.721C>T (p.Arg241Trp) rs199422225 0.00001
NM_005006.7(NDUFS1):c.154-9del rs568965659
NM_005006.7(NDUFS1):c.738-20A>T rs200128097
NM_005006.7(NDUFS1):c.966G>T (p.Ala322=) rs1127566

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