ClinVar Miner

Variants with conflicting interpretations studied for Immunodeficiency 35

Coded as:
Minimum review status of the submission for Immunodeficiency 35: Collection method of the submission for Immunodeficiency 35:
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
710 63 0 7 26 0 2 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
Immunodeficiency 35 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 0 0 1 1
likely pathogenic 0 0 1 0 0
uncertain significance 0 1 0 24 2
likely benign 1 0 24 0 7
benign 1 0 2 7 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
Immunodeficiency 35 710 63 0 7 26 0 2 34

All variants with conflicting interpretations #

Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003331.5(TYK2):c.3310C>G (p.Pro1104Ala) rs34536443 0.02850
NM_003331.5(TYK2):c.2783C>T (p.Ala928Val) rs35018800 0.00499
NM_003331.5(TYK2):c.1960-15G>A rs12720277 0.00261
NM_003331.5(TYK2):c.1869C>T (p.Asp623=) rs140078545 0.00110
NM_003331.5(TYK2):c.2250C>T (p.Gly750=) rs138652649 0.00093
NM_003331.5(TYK2):c.44T>C (p.Val15Ala) rs144960992 0.00069
NM_003331.5(TYK2):c.513G>A (p.Ser171=) rs55988893 0.00051
NM_003331.5(TYK2):c.193+14G>A rs199931972 0.00041
NM_003331.5(TYK2):c.2985C>T (p.Ile995=) rs147442318 0.00031
NM_003331.5(TYK2):c.648G>A (p.Pro216=) rs142642403 0.00030
NM_003331.5(TYK2):c.1141C>T (p.Arg381Trp) rs201240289 0.00027
NM_003331.5(TYK2):c.2670G>C (p.Thr890=) rs144332908 0.00026
NM_003331.5(TYK2):c.2102G>C (p.Arg701Thr) rs200791116 0.00014
NM_003331.5(TYK2):c.3200+3G>A rs143533630 0.00011
NM_003331.5(TYK2):c.1806C>T (p.Asn602=) rs765576893 0.00010
NM_003331.5(TYK2):c.1398C>T (p.Pro466=) rs200752112 0.00009
NM_003331.5(TYK2):c.372T>C (p.Arg124=) rs371832787 0.00008
NM_003331.5(TYK2):c.489C>T (p.Asp163=) rs748475805 0.00008
NM_003331.5(TYK2):c.783C>G (p.Ala261=) rs371939297 0.00008
NM_003331.5(TYK2):c.2176-9C>T rs370673325 0.00006
NM_003331.5(TYK2):c.1254G>A (p.Ser418=) rs201945206 0.00004
NM_003331.5(TYK2):c.1839C>T (p.Ser613=) rs748006603 0.00004
NM_003331.5(TYK2):c.1968C>T (p.Tyr656=) rs764154157 0.00004
NM_003331.5(TYK2):c.2646G>C (p.Pro882=) rs184567726 0.00003
NM_003331.5(TYK2):c.691C>T (p.Arg231Trp) rs201917359 0.00003
NM_003331.5(TYK2):c.1534G>A (p.Gly512Arg) rs146786766 0.00002
NM_003331.5(TYK2):c.3201-15C>T rs766488790 0.00002
NM_003331.5(TYK2):c.3555C>T (p.Ser1185=) rs372903125 0.00002
NM_003331.5(TYK2):c.1404C>T (p.Asp468=) rs374132564 0.00001
NM_003331.5(TYK2):c.2658G>A (p.Ala886=) rs761205319 0.00001
NM_003331.5(TYK2):c.879C>T (p.Ile293=) rs375414145 0.00001
NM_003331.5(TYK2):c.2618-14C>G rs532521303
NM_003331.5(TYK2):c.2715+9C>T rs886054132
NM_003331.5(TYK2):c.789C>T (p.Leu263=)

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