ClinVar Miner

List of variants in gene ARFGEF2 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 62
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.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.172C>T (p.Pro58Ser) rs149471454 0.00045
NM_006420.3(ARFGEF2):c.5228T>C (p.Met1743Thr) rs367994107 0.00043
NM_006420.3(ARFGEF2):c.5063C>T (p.Thr1688Ile) rs145439001 0.00041
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.2814+15G>C rs370805254 0.00027
NM_006420.3(ARFGEF2):c.493A>G (p.Thr165Ala) rs148230420 0.00014
NM_006420.3(ARFGEF2):c.4939T>A (p.Ser1647Thr) rs587780281 0.00011
NM_006420.3(ARFGEF2):c.695G>A (p.Arg232His) rs140989375 0.00009
NM_006420.3(ARFGEF2):c.2276+6C>T rs368941506 0.00008
NM_006420.3(ARFGEF2):c.846T>A (p.Asp282Glu) rs368886420 0.00008
NM_006420.3(ARFGEF2):c.2015G>A (p.Gly672Glu) rs373933885 0.00004
NM_006420.3(ARFGEF2):c.2253A>G (p.Ala751=) rs770578384 0.00004
NM_006420.3(ARFGEF2):c.4332G>A (p.Ala1444=) rs201206379 0.00004
NM_006420.3(ARFGEF2):c.5024G>A (p.Arg1675His) rs778607741 0.00004
NM_006420.3(ARFGEF2):c.586C>T (p.Arg196Cys) rs373500218 0.00004
NM_006420.3(ARFGEF2):c.2639C>T (p.Pro880Leu) rs183852730 0.00003
NM_006420.3(ARFGEF2):c.3274C>T (p.Arg1092Cys) rs144190029 0.00003
NM_006420.3(ARFGEF2):c.808G>A (p.Ala270Thr) rs778834589 0.00003
NM_006420.3(ARFGEF2):c.907+9C>T rs538199862 0.00003
NM_006420.3(ARFGEF2):c.103G>A (p.Ala35Thr) rs906585026 0.00002
NM_006420.3(ARFGEF2):c.3112C>T (p.Leu1038Phe) rs766069204 0.00002
NM_006420.3(ARFGEF2):c.3593C>T (p.Thr1198Ile) rs1212143011 0.00002
NM_006420.3(ARFGEF2):c.3843C>T (p.Ala1281=) rs748858379 0.00002
NM_006420.3(ARFGEF2):c.4715C>T (p.Thr1572Met) rs766756267 0.00002
NM_006420.3(ARFGEF2):c.1216G>C (p.Val406Leu) rs970042155 0.00001
NM_006420.3(ARFGEF2):c.1529C>T (p.Ala510Val) rs143277734 0.00001
NM_006420.3(ARFGEF2):c.1959G>A (p.Leu653=) rs200238031 0.00001
NM_006420.3(ARFGEF2):c.2406G>A (p.Arg802=) rs756651881 0.00001
NM_006420.3(ARFGEF2):c.3022G>A (p.Gly1008Ser) rs923421906 0.00001
NM_006420.3(ARFGEF2):c.3034C>T (p.Arg1012Cys) rs758071330 0.00001
NM_006420.3(ARFGEF2):c.3121G>A (p.Gly1041Ser) rs537313958 0.00001
NM_006420.3(ARFGEF2):c.3883C>T (p.Arg1295Cys) rs1355687781 0.00001
NM_006420.3(ARFGEF2):c.4403A>G (p.Asp1468Gly) rs775564236 0.00001
NM_006420.3(ARFGEF2):c.4557C>T (p.Pro1519=) rs797045258 0.00001
NM_006420.3(ARFGEF2):c.4865A>G (p.His1622Arg) rs1344849152 0.00001
NM_006420.3(ARFGEF2):c.5350G>C (p.Val1784Leu) rs571409699 0.00001
NM_006420.2(ARFGEF2):c.1062_1067del rs1555810077
NM_006420.3(ARFGEF2):c.1426-8T>C rs1555810408
NM_006420.3(ARFGEF2):c.1702G>A (p.Val568Met) rs1555810703
NM_006420.3(ARFGEF2):c.1775-9del rs797045255
NM_006420.3(ARFGEF2):c.178G>A (p.Ala60Thr) rs754961991
NM_006420.3(ARFGEF2):c.1808A>C (p.Asp603Ala) rs1600626622
NM_006420.3(ARFGEF2):c.1979G>A (p.Arg660Lys) rs772051446
NM_006420.3(ARFGEF2):c.284T>C (p.Ile95Thr) rs1555808172
NM_006420.3(ARFGEF2):c.3177G>T (p.Ser1059=) rs61748373
NM_006420.3(ARFGEF2):c.3707A>C (p.His1236Pro) rs369727237
NM_006420.3(ARFGEF2):c.3758-3del rs797045256
NM_006420.3(ARFGEF2):c.3961G>A (p.Gly1321Ser) rs797045257
NM_006420.3(ARFGEF2):c.4136T>C (p.Phe1379Ser) rs587780280
NM_006420.3(ARFGEF2):c.4624+6G>T rs768990826
NM_006420.3(ARFGEF2):c.4756-7C>T rs868504867
NM_006420.3(ARFGEF2):c.5023C>T (p.Arg1675Cys) rs540246597
NM_006420.3(ARFGEF2):c.5064-4C>G rs797045259
NM_006420.3(ARFGEF2):c.5328G>C (p.Gln1776His) rs2123591924
NM_006420.3(ARFGEF2):c.756C>A (p.Asn252Lys) rs114729625
NM_006420.3(ARFGEF2):c.898G>C (p.Ala300Pro) rs797045260

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.