ClinVar Miner

Variants in gene ARFGEF2 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 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
273 15 0 13 15 1 1 26

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 drug response protective other
pathogenic 0 1 0 0 0 0 0 0
likely pathogenic 2 0 1 1 1 1 1 1
uncertain significance 0 0 0 10 7 0 0 0
likely benign 0 0 10 0 11 0 0 0
benign 0 0 7 11 0 0 0 0

All variants with conflicting interpretations #

Total variants: 26
Download table as spreadsheet
HGVS dbSNP
NM_006420.3(ARFGEF2):c.1185C>T (p.Asp395=) rs140378669
NM_006420.3(ARFGEF2):c.1233C>T (p.Leu411=) rs147617265
NM_006420.3(ARFGEF2):c.1275C>T (p.His425=) rs117131028
NM_006420.3(ARFGEF2):c.1398T>C (p.Phe466=) rs141596938
NM_006420.3(ARFGEF2):c.1512G>A (p.Thr504=) rs116550473
NM_006420.3(ARFGEF2):c.1644G>A (p.Glu548=) rs147534008
NM_006420.3(ARFGEF2):c.169C>T (p.Pro57Ser) rs73113975
NM_006420.3(ARFGEF2):c.1888G>A (p.Val630Ile) rs146772848
NM_006420.3(ARFGEF2):c.2686-9C>T rs200945599
NM_006420.3(ARFGEF2):c.2814+15G>C rs370805254
NM_006420.3(ARFGEF2):c.2815-7G>A rs187176143
NM_006420.3(ARFGEF2):c.3177G>T (p.Ser1059=) rs61748373
NM_006420.3(ARFGEF2):c.3275G>A (p.Arg1092His) rs151045115
NM_006420.3(ARFGEF2):c.3663T>C (p.Gly1221=) rs2295580
NM_006420.3(ARFGEF2):c.3843C>T (p.Ala1281=) rs748858379
NM_006420.3(ARFGEF2):c.3892G>A (p.Gly1298Ser) rs139037316
NM_006420.3(ARFGEF2):c.4131C>T (p.Ile1377=) rs2281582
NM_006420.3(ARFGEF2):c.4212C>T (p.His1404=) rs376257322
NM_006420.3(ARFGEF2):c.4462A>T (p.Thr1488Ser) rs151221957
NM_006420.3(ARFGEF2):c.4812G>A (p.Lys1604=) rs142036030
NM_006420.3(ARFGEF2):c.625G>A (p.Glu209Lys) rs28937880
NM_006420.3(ARFGEF2):c.656dup (p.Val220fs) rs730882200
NM_006420.3(ARFGEF2):c.807C>T (p.Asp269=) rs149172723
NM_006420.3(ARFGEF2):c.811C>G (p.Pro271Ala) rs143570842
NM_006420.3(ARFGEF2):c.907+9C>T rs538199862
Single allele rs730882200

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