ClinVar Miner

Variants in gene OFD1 with conflicting interpretations

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 Variants with at least 2 submissions 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 kind of conflict
228 21 13 11 7 1 2 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.

pathogenic likely pathogenic uncertain significance likely benign benign association
pathogenic 12 1 2 1 1 1
uncertain significance 1 0 0 5 5 0
likely benign 0 0 5 0 10 0
benign 0 0 5 10 1 0

All variants with conflicting interpretations #

Total variants: 29
Download table as spreadsheet
HGVS dbSNP
NM_003611.2(OFD1):c.312+1delG rs312262822
NM_003611.3(OFD1):c.*3A>G rs183202009
NM_003611.3(OFD1):c.1007dup (p.Ser337fs) rs749448671
NM_003611.3(OFD1):c.111+2T>C rs312262809
NM_003611.3(OFD1):c.1129+16A>G rs3815049
NM_003611.3(OFD1):c.1189_1192AATC[1] (p.Gln398fs) rs312262868
NM_003611.3(OFD1):c.1303A>C (p.Ser435Arg) rs122460150
NM_003611.3(OFD1):c.1730A>G (p.Asn577Ser) rs200465596
NM_003611.3(OFD1):c.1888_1889insTA (p.Asn630fs) rs312262886
NM_003611.3(OFD1):c.1923G>A (p.Glu641=) rs145300245
NM_003611.3(OFD1):c.1930C>T (p.Arg644Cys) rs185831378
NM_003611.3(OFD1):c.2025G>T (p.Leu675Phe) rs149473481
NM_003611.3(OFD1):c.2033C>G (p.Ala678Gly) rs143954823
NM_003611.3(OFD1):c.2052C>T (p.Ser684=) rs61742891
NM_003611.3(OFD1):c.2060C>T (p.Pro687Leu) rs146251034
NM_003611.3(OFD1):c.2126_2129dup (p.Asn711fs) rs312262890
NM_003611.3(OFD1):c.2524G>A (p.Gly842Arg) rs146047094
NM_003611.3(OFD1):c.260A>G (p.Tyr87Cys) rs312262818
NM_003611.3(OFD1):c.2619T>A (p.Ile873=) rs797045847
NM_003611.3(OFD1):c.2631G>A (p.Lys877=) rs797045848
NM_003611.3(OFD1):c.294_312del (p.Ser98fs) rs312262821
NM_003611.3(OFD1):c.400_403del (p.Glu134fs) rs312262830
NM_003611.3(OFD1):c.413-10T>G rs312262833
NM_003611.3(OFD1):c.54A>G (p.Glu18=) rs147114577
NM_003611.3(OFD1):c.710del (p.Lys237fs) rs312262845
NM_003611.3(OFD1):c.714T>C (p.Tyr238=) rs139848884
NM_003611.3(OFD1):c.875_876AT[1] (p.Met293fs) rs312262858
NM_003611.3(OFD1):c.936-2A>G rs199902986
Single allele

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