ClinVar Miner

Variants in gene ARFGEF2 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006420.3(ARFGEF2):c.807C>T (p.Asp269=) rs149172723 0.00230
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.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.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.1190+6C>T rs370106283 0.00006
NM_006420.3(ARFGEF2):c.2253A>G (p.Ala751=) rs770578384 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.3177G>T (p.Ser1059=) rs61748373

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.