ClinVar Miner

Variants in gene ARFGEF2 with conflicting interpretations

See also:
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
566 61 0 21 27 1 1 40

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 protective other
pathogenic 0 1 0 0 0 0 0
likely pathogenic 2 0 1 1 1 1 1
uncertain significance 0 0 0 25 9 0 0
likely benign 0 0 25 0 19 0 0
benign 0 0 9 19 0 0 0

All variants with conflicting interpretations #

Total variants: 40
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006420.3(ARFGEF2):c.3663T>C (p.Gly1221=) rs2295580 0.38170
NM_006420.3(ARFGEF2):c.4131C>T (p.Ile1377=) rs2281582 0.13125
NM_006420.3(ARFGEF2):c.169C>T (p.Pro57Ser) rs73113975 0.00540
NM_006420.3(ARFGEF2):c.1512G>A (p.Thr504=) rs116550473 0.00395
NM_006420.3(ARFGEF2):c.807C>T (p.Asp269=) rs149172723 0.00230
NM_006420.3(ARFGEF2):c.424-17G>A rs142971046 0.00200
NM_006420.3(ARFGEF2):c.3892G>A (p.Gly1298Ser) rs139037316 0.00124
NM_006420.3(ARFGEF2):c.1888G>A (p.Val630Ile) rs146772848 0.00107
NM_006420.3(ARFGEF2):c.811C>G (p.Pro271Ala) rs143570842 0.00102
NM_006420.3(ARFGEF2):c.1644G>A (p.Glu548=) rs147534008 0.00098
NM_006420.3(ARFGEF2):c.2686-9C>T rs200945599 0.00092
NM_006420.3(ARFGEF2):c.1398T>C (p.Phe466=) rs141596938 0.00081
NM_006420.3(ARFGEF2):c.625G>A (p.Glu209Lys) rs28937880 0.00079
NM_006420.3(ARFGEF2):c.3129G>T (p.Leu1043Phe) rs148770948 0.00063
NM_006420.3(ARFGEF2):c.1185C>T (p.Asp395=) rs140378669 0.00059
NM_006420.3(ARFGEF2):c.3275G>A (p.Arg1092His) rs151045115 0.00052
NM_006420.3(ARFGEF2):c.4462A>T (p.Thr1488Ser) rs151221957 0.00046
NM_006420.3(ARFGEF2):c.1233C>T (p.Leu411=) rs147617265 0.00039
NM_006420.3(ARFGEF2):c.2815-7G>A rs187176143 0.00034
NM_006420.3(ARFGEF2):c.756C>T (p.Asn252=) rs114729625 0.00031
NM_006420.3(ARFGEF2):c.2686-16C>A rs370562126 0.00028
NM_006420.3(ARFGEF2):c.2814+15G>C rs370805254 0.00027
NM_006420.3(ARFGEF2):c.4346A>C (p.Asn1449Thr) rs200473895 0.00026
NM_006420.3(ARFGEF2):c.4812G>A (p.Lys1604=) rs142036030 0.00014
NM_006420.3(ARFGEF2):c.1329C>T (p.Asn443=) rs192383756 0.00012
NM_006420.3(ARFGEF2):c.2276+6C>T rs368941506 0.00008
NM_006420.3(ARFGEF2):c.1190+6C>T rs370106283 0.00006
NM_006420.3(ARFGEF2):c.2253A>G (p.Ala751=) rs770578384 0.00004
NM_006420.3(ARFGEF2):c.4212C>T (p.His1404=) rs376257322 0.00004
NM_006420.3(ARFGEF2):c.5238C>T (p.Asp1746=) rs371687802 0.00003
NM_006420.3(ARFGEF2):c.907+9C>T rs538199862 0.00003
NM_006420.3(ARFGEF2):c.3843C>T (p.Ala1281=) rs748858379 0.00002
NM_006420.3(ARFGEF2):c.2406G>A (p.Arg802=) rs756651881 0.00001
NM_006420.3(ARFGEF2):c.4557C>T (p.Pro1519=) rs797045258 0.00001
NM_006420.3(ARFGEF2):c.276+6A>G rs1427216608
NM_006420.3(ARFGEF2):c.3177G>T (p.Ser1059=) rs61748373
NM_006420.3(ARFGEF2):c.3758-3del rs797045256
NM_006420.3(ARFGEF2):c.4756-7C>T rs868504867
NM_006420.3(ARFGEF2):c.656dup (p.Val220fs) rs730882200
Single allele rs730882200

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.