ClinVar Miner

List of variants in gene ARFGEF2 studied for congenital nervous system disorder

Included ClinVar conditions (840):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 158
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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.*2602A>G rs707534 0.36873
NM_006420.3(ARFGEF2):c.*1756G>A rs6019602 0.36859
NM_006420.3(ARFGEF2):c.*2518A>G rs707533 0.36388
NM_006420.3(ARFGEF2):c.3433-53G>A rs4810910 0.31864
NM_006420.3(ARFGEF2):c.1060-42T>C rs3764683 0.31678
NM_006420.3(ARFGEF2):c.4180-63A>G rs1473718 0.23772
NM_006420.3(ARFGEF2):c.2277-16G>A rs4810905 0.23578
NM_006420.3(ARFGEF2):c.3222-65G>A rs3764681 0.23483
NM_006420.3(ARFGEF2):c.4131C>T (p.Ile1377=) rs2281582 0.13125
NM_006420.3(ARFGEF2):c.*494G>A rs55874131 0.04885
NM_006420.3(ARFGEF2):c.*237A>G rs3752257 0.01186
NM_006420.3(ARFGEF2):c.*368A>G rs78721163 0.01030
NM_006420.3(ARFGEF2):c.*1603A>G rs138230360 0.00883
NM_006420.3(ARFGEF2):c.1425+11C>T rs74970217 0.00818
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.*140C>T rs75190712 0.00475
NM_006420.3(ARFGEF2):c.*1015C>T rs187156346 0.00394
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.*70C>T rs373799127 0.00126
NM_006420.3(ARFGEF2):c.*323G>A rs138079869 0.00125
NM_006420.3(ARFGEF2):c.*127C>T rs145405274 0.00124
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.625G>A (p.Glu209Lys) rs28937880 0.00079
NM_006420.3(ARFGEF2):c.3275G>A (p.Arg1092His) rs151045115 0.00052
NM_006420.3(ARFGEF2):c.*2240A>C rs544204791 0.00048
NM_006420.3(ARFGEF2):c.3507T>G (p.Leu1169=) rs117818460 0.00046
NM_006420.3(ARFGEF2):c.4462A>T (p.Thr1488Ser) rs151221957 0.00046
NM_006420.3(ARFGEF2):c.*1876G>A rs190707103 0.00041
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.2815-7G>A rs187176143 0.00034
NM_006420.3(ARFGEF2):c.3046G>C (p.Gly1016Arg) rs149644732 0.00029
NM_006420.3(ARFGEF2):c.4346A>C (p.Asn1449Thr) rs200473895 0.00026
NM_006420.3(ARFGEF2):c.*1422A>G rs145729807 0.00024
NM_006420.3(ARFGEF2):c.-5G>A rs375056092 0.00020
NM_006420.3(ARFGEF2):c.1294A>G (p.Ile432Val) rs41296207 0.00015
NM_006420.3(ARFGEF2):c.*1016G>A rs534792055 0.00014
NM_006420.3(ARFGEF2):c.2640G>A (p.Pro880=) rs368844677 0.00013
NM_006420.3(ARFGEF2):c.694C>T (p.Arg232Cys) rs200040098 0.00013
NM_006420.3(ARFGEF2):c.1329C>T (p.Asn443=) rs192383756 0.00012
NM_006420.3(ARFGEF2):c.*819C>T rs779640545 0.00011
NM_006420.3(ARFGEF2):c.695G>A (p.Arg232His) rs140989375 0.00009
NM_006420.3(ARFGEF2):c.2276+10G>A rs376568632 0.00007
NM_006420.3(ARFGEF2):c.*215G>T rs886056760 0.00006
NM_006420.3(ARFGEF2):c.2558G>A (p.Arg853Gln) rs141183045 0.00006
NM_006420.3(ARFGEF2):c.4480A>G (p.Met1494Val) rs200763159 0.00006
NM_006420.3(ARFGEF2):c.*141G>A rs200664908 0.00005
NM_006420.3(ARFGEF2):c.2260A>G (p.Ile754Val) rs368246400 0.00005
NM_006420.3(ARFGEF2):c.847G>A (p.Asp283Asn) rs372150935 0.00005
NM_006420.3(ARFGEF2):c.*1104G>A rs1350367030 0.00004
NM_006420.3(ARFGEF2):c.*1560G>A rs762815860 0.00004
NM_006420.3(ARFGEF2):c.*2609C>T rs780728922 0.00004
NM_006420.3(ARFGEF2):c.*2758A>T rs886056771 0.00004
NM_006420.3(ARFGEF2):c.1585A>G (p.Ile529Val) rs770424682 0.00004
NM_006420.3(ARFGEF2):c.158G>T (p.Gly53Val) rs374268118 0.00004
NM_006420.3(ARFGEF2):c.2253A>G (p.Ala751=) rs770578384 0.00004
NM_006420.3(ARFGEF2):c.3318C>T (p.His1106=) rs374285087 0.00004
NM_006420.3(ARFGEF2):c.3718A>G (p.Ile1240Val) rs762641248 0.00004
NM_006420.3(ARFGEF2):c.4332G>A (p.Ala1444=) rs201206379 0.00004
NM_006420.3(ARFGEF2):c.4526G>A (p.Arg1509His) rs774033935 0.00004
NM_006420.3(ARFGEF2):c.770G>A (p.Arg257Lys) rs150046458 0.00004
NM_006420.3(ARFGEF2):c.*1304C>T rs886056763 0.00003
NM_006420.3(ARFGEF2):c.*161A>G rs759606916 0.00003
NM_006420.3(ARFGEF2):c.3274C>T (p.Arg1092Cys) rs144190029 0.00003
NM_006420.3(ARFGEF2):c.338G>A (p.Arg113Gln) rs143956045 0.00003
NM_006420.3(ARFGEF2):c.5286A>G (p.Ile1762Met) rs774661656 0.00003
NM_006420.3(ARFGEF2):c.*1564G>A rs886056764 0.00002
NM_006420.3(ARFGEF2):c.*2067G>C rs886056769 0.00002
NM_006420.3(ARFGEF2):c.*2692C>T rs1179998104 0.00002
NM_006420.3(ARFGEF2):c.*32G>T rs755592884 0.00002
NM_006420.3(ARFGEF2):c.1015G>C (p.Gly339Arg) rs756966050 0.00002
NM_006420.3(ARFGEF2):c.*1184A>G rs974735979 0.00001
NM_006420.3(ARFGEF2):c.*134C>T rs886056759 0.00001
NM_006420.3(ARFGEF2):c.*2391C>T rs1706314849 0.00001
NM_006420.3(ARFGEF2):c.*2451A>C rs886056770 0.00001
NM_006420.3(ARFGEF2):c.*2820T>G rs886056773 0.00001
NM_006420.3(ARFGEF2):c.*29T>C rs1473235404 0.00001
NM_006420.3(ARFGEF2):c.*3486T>A rs886056774 0.00001
NM_006420.3(ARFGEF2):c.*503G>A rs372740919 0.00001
NM_006420.3(ARFGEF2):c.1030A>C (p.Arg344=) rs199671906 0.00001
NM_006420.3(ARFGEF2):c.1105G>A (p.Val369Ile) rs752769332 0.00001
NM_006420.3(ARFGEF2):c.1204C>T (p.Arg402Cys) rs1022300649 0.00001
NM_006420.3(ARFGEF2):c.1425+15G>A rs374522450 0.00001
NM_006420.3(ARFGEF2):c.1498A>G (p.Ile500Val) rs771654087 0.00001
NM_006420.3(ARFGEF2):c.1665+7A>C rs1465936788 0.00001
NM_006420.3(ARFGEF2):c.1834C>T (p.Arg612Trp) rs370911063 0.00001
NM_006420.3(ARFGEF2):c.2133C>T (p.Tyr711=) rs375355661 0.00001
NM_006420.3(ARFGEF2):c.2250C>T (p.Ala750=) rs748759292 0.00001
NM_006420.3(ARFGEF2):c.2251G>T (p.Ala751Ser) rs1383096323 0.00001
NM_006420.3(ARFGEF2):c.2658C>T (p.His886=) rs201685748 0.00001
NM_006420.3(ARFGEF2):c.4061T>C (p.Val1354Ala) rs771148216 0.00001
NM_006420.3(ARFGEF2):c.4180-13T>C rs772099376 0.00001
NM_006420.3(ARFGEF2):c.4315+5T>G rs753508291 0.00001
NM_006420.3(ARFGEF2):c.4316-12T>C rs573635235 0.00001
NM_006420.3(ARFGEF2):c.4348T>A (p.Cys1450Ser) rs756288865 0.00001
NM_006420.3(ARFGEF2):c.4373A>G (p.Asn1458Ser) rs886056757 0.00001
NM_006420.3(ARFGEF2):c.454A>G (p.Ile152Val) rs753026131 0.00001
NM_006420.3(ARFGEF2):c.5254C>T (p.Arg1752Ter) rs1380925561 0.00001
NM_006420.3(ARFGEF2):c.5275T>C (p.Phe1759Leu) rs1321725717 0.00001
NM_006420.2(ARFGEF2):c.1062_1067del rs1555810077
NM_006420.3(ARFGEF2):c.*1138C>A rs886056761
NM_006420.3(ARFGEF2):c.*1200A>G rs886056762
NM_006420.3(ARFGEF2):c.*134C>A rs886056759
NM_006420.3(ARFGEF2):c.*148C>G rs2091648709
NM_006420.3(ARFGEF2):c.*1608T>C rs886056765
NM_006420.3(ARFGEF2):c.*1708C>G rs149552930
NM_006420.3(ARFGEF2):c.*1789A>G rs886056766
NM_006420.3(ARFGEF2):c.*1846C>T rs754078836
NM_006420.3(ARFGEF2):c.*1932A>G rs886056767
NM_006420.3(ARFGEF2):c.*1943G>T rs946007785
NM_006420.3(ARFGEF2):c.*1969G>A rs144237181
NM_006420.3(ARFGEF2):c.*1969G>C rs144237181
NM_006420.3(ARFGEF2):c.*2014T>G rs886056768
NM_006420.3(ARFGEF2):c.*2591G>A rs539966221
NM_006420.3(ARFGEF2):c.*2858C>A rs2091664736
NM_006420.3(ARFGEF2):c.*2898C>T rs562341163
NM_006420.3(ARFGEF2):c.*640T>A rs1406171766
NM_006420.3(ARFGEF2):c.*866T>C rs2091652886
NM_006420.3(ARFGEF2):c.1064C>T (p.Ser355Leu) rs886056752
NM_006420.3(ARFGEF2):c.1072C>T (p.Gln358Ter) rs1568711950
NM_006420.3(ARFGEF2):c.1155C>T (p.Ser385=) rs190799417
NM_006420.3(ARFGEF2):c.1182A>G (p.Pro394=) rs886056753
NM_006420.3(ARFGEF2):c.1240G>C (p.Val414Leu) rs777757005
NM_006420.3(ARFGEF2):c.1247A>C (p.Gln416Pro) rs753932082
NM_006420.3(ARFGEF2):c.1299G>A (p.Lys433=) rs2091225776
NM_006420.3(ARFGEF2):c.1492del (p.Met498fs) rs1600623496
NM_006420.3(ARFGEF2):c.1497C>T (p.Val499=) rs745336226
NM_006420.3(ARFGEF2):c.1926A>G (p.Gln642=) rs2091259890
NM_006420.3(ARFGEF2):c.1958+1G>A rs398122523
NM_006420.3(ARFGEF2):c.2071-10T>C rs886056754
NM_006420.3(ARFGEF2):c.2147A>G (p.Asp716Gly) rs2091321833
NM_006420.3(ARFGEF2):c.2638_2639delinsT (p.Pro880fs) rs1555811929
NM_006420.3(ARFGEF2):c.2815-5T>A rs2091354660
NM_006420.3(ARFGEF2):c.2821C>T (p.Arg941Ter)
NM_006420.3(ARFGEF2):c.2831A>T (p.Tyr944Phe) rs886056756
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.3262G>A (p.Val1088Ile) rs1568729284
NM_006420.3(ARFGEF2):c.3900C>T (p.Tyr1300=) rs142138231
NM_006420.3(ARFGEF2):c.3945C>T (p.Asp1315=) rs2091513501
NM_006420.3(ARFGEF2):c.4003G>T (p.Glu1335Ter)
NM_006420.3(ARFGEF2):c.4219T>A (p.Tyr1407Asn) rs1319305357
NM_006420.3(ARFGEF2):c.4269del (p.Leu1424fs) rs2091529784
NM_006420.3(ARFGEF2):c.4732G>C (p.Ala1578Pro) rs757149873
NM_006420.3(ARFGEF2):c.4924+13A>G rs886056758
NM_006420.3(ARFGEF2):c.5068T>G (p.Cys1690Gly)
NM_006420.3(ARFGEF2):c.5105C>T (p.Ser1702Phe) rs767531219
NM_006420.3(ARFGEF2):c.699G>A (p.Leu233=) rs1451359812
NM_006420.3(ARFGEF2):c.728C>G (p.Thr243Arg)
NM_006420.3(ARFGEF2):c.91C>T (p.Gln31Ter)
NM_006420.3(ARFGEF2):c.[242C>A;247_249delinsTT]

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