ClinVar Miner

Variants with conflicting interpretations studied for Immunodeficiency 51

Coded as:
Minimum review status of the submission for Immunodeficiency 51: Collection method of the submission for Immunodeficiency 51:
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
705 38 0 1 28 0 0 29

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 51 uncertain significance likely benign benign
uncertain significance 0 26 2
likely benign 26 0 1
benign 2 1 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 51 705 38 0 1 28 0 0 29

All variants with conflicting interpretations #

Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014339.7(IL17RA):c.1174G>T (p.Val392Leu) rs146478431 0.00249
NM_014339.7(IL17RA):c.958T>C (p.Trp320Arg) rs140221307 0.00230
NM_014339.7(IL17RA):c.152C>T (p.Thr51Met) rs143008696 0.00223
NM_014339.7(IL17RA):c.30T>A (p.Ala10=) rs577217331 0.00204
NM_014339.7(IL17RA):c.1689C>T (p.Gly563=) rs146292661 0.00185
NM_014339.7(IL17RA):c.1493C>T (p.Thr498Ile) rs41529049 0.00173
NM_014339.7(IL17RA):c.1407C>T (p.Cys469=) rs41396346 0.00122
NM_014339.7(IL17RA):c.465G>C (p.Gln155His) rs142199303 0.00088
NM_014339.7(IL17RA):c.1232C>T (p.Ala411Val) rs151166583 0.00069
NM_014339.7(IL17RA):c.978G>A (p.Thr326=) rs143239201 0.00060
NM_014339.7(IL17RA):c.1046G>C (p.Gly349Ala) rs143897670 0.00015
NM_014339.7(IL17RA):c.847-14C>G rs201410617 0.00013
NM_014339.7(IL17RA):c.625G>A (p.Val209Met) rs534512644 0.00010
NM_014339.7(IL17RA):c.676G>C (p.Glu226Gln) rs144085995 0.00010
NM_014339.7(IL17RA):c.2466G>A (p.Gly822=) rs373070776 0.00008
NM_014339.7(IL17RA):c.1475G>A (p.Arg492Lys) rs770597137 0.00007
NM_014339.7(IL17RA):c.1045+6C>T rs763664351 0.00004
NM_014339.7(IL17RA):c.1381C>T (p.Arg461Trp) rs554211497 0.00004
NM_014339.7(IL17RA):c.1728C>T (p.Asp576=) rs767714232 0.00003
NM_014339.7(IL17RA):c.1986G>A (p.Pro662=) rs990617336 0.00003
NM_014339.7(IL17RA):c.1167C>G (p.Pro389=) rs139412425 0.00002
NM_014339.7(IL17RA):c.1045+7G>A rs572837622 0.00001
NM_014339.7(IL17RA):c.1347C>T (p.Arg449=) rs781731675 0.00001
NM_014339.7(IL17RA):c.1928G>A (p.Gly643Glu) rs559058243 0.00001
NM_014339.7(IL17RA):c.36G>T (p.Pro12=) rs886057200 0.00001
NM_014339.7(IL17RA):c.1233C>T (p.Ala411=) rs552425210
NM_014339.7(IL17RA):c.1632G>C (p.Pro544=) rs550947413
NM_014339.7(IL17RA):c.641C>T (p.Ala214Val) rs558799480
NM_014339.7(IL17RA):c.894C>T (p.Ser298=) rs374537654

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