ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 89
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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.423+3A>G rs2295029 0.00491
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.1275C>T (p.His425=) rs117131028 0.00143
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.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.3456T>C (p.Asp1152=) rs145545997 0.00040
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.2940C>T (p.Thr980=) rs41296217 0.00031
NM_006420.3(ARFGEF2):c.756C>T (p.Asn252=) rs114729625 0.00031
NM_006420.3(ARFGEF2):c.2814+15G>C rs370805254 0.00027
NM_006420.3(ARFGEF2):c.4812G>A (p.Lys1604=) rs142036030 0.00014
NM_006420.3(ARFGEF2):c.493A>G (p.Thr165Ala) rs148230420 0.00014
NM_006420.3(ARFGEF2):c.2640G>A (p.Pro880=) rs368844677 0.00013
NM_006420.3(ARFGEF2):c.1953C>T (p.Ile651=) rs377322572 0.00011
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.3003C>T (p.Leu1001=) rs752737205 0.00006
NM_006420.3(ARFGEF2):c.3120C>T (p.Leu1040=) rs751240187 0.00006
NM_006420.3(ARFGEF2):c.1017G>C (p.Gly339=) rs765982548 0.00005
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.4320T>C (p.Asn1440=) rs758848307 0.00002
NM_006420.3(ARFGEF2):c.4715C>T (p.Thr1572Met) rs766756267 0.00002
NM_006420.3(ARFGEF2):c.1203G>A (p.Leu401=) rs747567218 0.00001
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.2412C>T (p.Ile804=) rs750860901 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.4749C>T (p.Ala1583=) rs757878455 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.1014C>T (p.Asn338=) rs201523904
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.2638_2639delinsT (p.Pro880fs) rs1555811929
NM_006420.3(ARFGEF2):c.284T>C (p.Ile95Thr) rs1555808172
NM_006420.3(ARFGEF2):c.3177G>A (p.Ser1059=) rs61748373
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

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