ClinVar Miner

Variants with conflicting interpretations studied for Fraser syndrome 1

Coded as:
Minimum review status of the submission for Fraser syndrome 1: Collection method of the submission for Fraser syndrome 1:
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
577 105 0 15 7 0 2 24

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
Fraser syndrome 1 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 5 2 0 0
likely pathogenic 5 0 0 0 0
uncertain significance 2 0 0 6 1
likely benign 0 0 6 0 10
benign 0 0 1 10 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
Fraser syndrome 1 577 105 0 15 7 0 2 24

All variants with conflicting interpretations #

Total variants: 24
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_025074.7(FRAS1):c.11717T>C (p.Ile3906Thr) rs61748814 0.01397
NM_025074.7(FRAS1):c.10230C>T (p.Tyr3410=) rs34034599 0.01250
NM_025074.7(FRAS1):c.1416C>T (p.Cys472=) rs35690113 0.01114
NM_025074.7(FRAS1):c.3951G>A (p.Leu1317=) rs76107832 0.01090
NM_025074.7(FRAS1):c.4940C>T (p.Thr1647Ile) rs34271211 0.00909
NM_025074.7(FRAS1):c.1710C>T (p.Pro570=) rs17003124 0.00783
NM_025074.7(FRAS1):c.10160T>C (p.Leu3387Pro) rs137982616 0.00365
NM_025074.7(FRAS1):c.5046C>G (p.Asp1682Glu) rs35219594 0.00344
NM_025074.7(FRAS1):c.8832C>T (p.Ser2944=) rs114854941 0.00296
NM_025074.7(FRAS1):c.4648C>T (p.Leu1550Phe) rs148663672 0.00269
NM_025074.7(FRAS1):c.7622A>G (p.Asn2541Ser) rs144530996 0.00170
NM_025074.7(FRAS1):c.7652A>G (p.Gln2551Arg) rs183712679 0.00169
NM_025074.7(FRAS1):c.789+12T>G rs142206350 0.00142
NM_025074.7(FRAS1):c.6286C>T (p.Arg2096Cys) rs193229946 0.00014
NM_025074.7(FRAS1):c.4181G>C (p.Gly1394Ala) rs376487875 0.00010
NM_025074.7(FRAS1):c.1072-5C>T rs570183677 0.00006
NM_025074.7(FRAS1):c.2719C>T (p.Gln907Ter) rs755750961 0.00001
NM_025074.7(FRAS1):c.6010G>A (p.Gly2004Ser) rs771251344 0.00001
NM_025074.7(FRAS1):c.7551T>A (p.Tyr2517Ter) rs745597204 0.00001
NM_001366722.1(GRIP1):c.*1261dup rs35499444
NM_025074.7(FRAS1):c.4183C>T (p.Gln1395Ter) rs1733155852
NM_025074.7(FRAS1):c.5125C>T (p.Arg1709Ter) rs775517752
NM_025074.7(FRAS1):c.5419_5424del (p.Phe1807_Ser1808del) rs730882178
NM_025074.7(FRAS1):c.6433C>T (p.Arg2145Ter) rs756005814

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