ClinVar Miner

List of variants studied for Adams-Oliver syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 128
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HGVS dbSNP
NM_020754.4(ARHGAP31):c.*105T>C rs185124298
NM_020754.4(ARHGAP31):c.*1089C>T rs886057805
NM_020754.4(ARHGAP31):c.*1126A>T rs116466342
NM_020754.4(ARHGAP31):c.*1156C>G rs115630304
NM_020754.4(ARHGAP31):c.*1176T>G rs114261128
NM_020754.4(ARHGAP31):c.*1186A>G rs886057806
NM_020754.4(ARHGAP31):c.*1219C>T rs113918185
NM_020754.4(ARHGAP31):c.*1233A>G rs886057807
NM_020754.4(ARHGAP31):c.*1238T>C rs115845847
NM_020754.4(ARHGAP31):c.*1311A>T rs146808640
NM_020754.4(ARHGAP31):c.*1373G>A rs750355275
NM_020754.4(ARHGAP31):c.*1386A>T rs180781573
NM_020754.4(ARHGAP31):c.*1387_*1390CTCA[1] rs201595453
NM_020754.4(ARHGAP31):c.*1533T>C rs567101775
NM_020754.4(ARHGAP31):c.*1648C>T rs886057809
NM_020754.4(ARHGAP31):c.*1657C>T rs78943363
NM_020754.4(ARHGAP31):c.*1692G>T rs76616804
NM_020754.4(ARHGAP31):c.*1712T>C rs72968497
NM_020754.4(ARHGAP31):c.*1811G>A rs886057810
NM_020754.4(ARHGAP31):c.*183A>G rs886057804
NM_020754.4(ARHGAP31):c.*1978T>A rs886057811
NM_020754.4(ARHGAP31):c.*1987C>G rs559362755
NM_020754.4(ARHGAP31):c.*1995G>A rs186689946
NM_020754.4(ARHGAP31):c.*2051C>A rs74665630
NM_020754.4(ARHGAP31):c.*2101A>T rs886057812
NM_020754.4(ARHGAP31):c.*2110G>A rs886057813
NM_020754.4(ARHGAP31):c.*2173G>A rs534303032
NM_020754.4(ARHGAP31):c.*2178C>T rs770268525
NM_020754.4(ARHGAP31):c.*2192G>T rs566368695
NM_020754.4(ARHGAP31):c.*2281C>G rs183825811
NM_020754.4(ARHGAP31):c.*2355A>G rs12631504
NM_020754.4(ARHGAP31):c.*2471G>T rs886057814
NM_020754.4(ARHGAP31):c.*267C>T rs3732415
NM_020754.4(ARHGAP31):c.*2689C>T rs529808528
NM_020754.4(ARHGAP31):c.*2693G>A rs12494943
NM_020754.4(ARHGAP31):c.*269A>G rs74767080
NM_020754.4(ARHGAP31):c.*2743C>A rs78013508
NM_020754.4(ARHGAP31):c.*2743C>G rs78013508
NM_020754.4(ARHGAP31):c.*2744A>G rs9289129
NM_020754.4(ARHGAP31):c.*2764C>A rs886057815
NM_020754.4(ARHGAP31):c.*2801C>T rs12495539
NM_020754.4(ARHGAP31):c.*2802G>A rs77420174
NM_020754.4(ARHGAP31):c.*2842T>C rs147003993
NM_020754.4(ARHGAP31):c.*2912A>G rs886057816
NM_020754.4(ARHGAP31):c.*2935C>T rs886057817
NM_020754.4(ARHGAP31):c.*3013G>A rs73857025
NM_020754.4(ARHGAP31):c.*3021G>A rs116075883
NM_020754.4(ARHGAP31):c.*3123A>G rs574039254
NM_020754.4(ARHGAP31):c.*3166C>G rs138144745
NM_020754.4(ARHGAP31):c.*38T>G rs886057803
NM_020754.4(ARHGAP31):c.*466C>T rs116944967
NM_020754.4(ARHGAP31):c.*590C>G rs145064712
NM_020754.4(ARHGAP31):c.*590C>T rs145064712
NM_020754.4(ARHGAP31):c.*610T>A rs779853850
NM_020754.4(ARHGAP31):c.*737A>G rs185158937
NM_020754.4(ARHGAP31):c.*985_*986insC rs11391882
NM_020754.4(ARHGAP31):c.-105C>T rs886057797
NM_020754.4(ARHGAP31):c.-149G>A rs62265186
NM_020754.4(ARHGAP31):c.-172_-166CCCGCGG[3] rs886057796
NM_020754.4(ARHGAP31):c.-194G>A rs4687994
NM_020754.4(ARHGAP31):c.-199C>T rs886057795
NM_020754.4(ARHGAP31):c.-209C>T rs886057794
NM_020754.4(ARHGAP31):c.-295A>G rs549187231
NM_020754.4(ARHGAP31):c.-369G>A rs548441120
NM_020754.4(ARHGAP31):c.-38C>A rs72960626
NM_020754.4(ARHGAP31):c.-390G>C rs886057793
NM_020754.4(ARHGAP31):c.-40G>A rs149723943
NM_020754.4(ARHGAP31):c.-443C>G rs886057792
NM_020754.4(ARHGAP31):c.100+9C>T rs76783588
NM_020754.4(ARHGAP31):c.1044C>T (p.Asp348=) rs369521143
NM_020754.4(ARHGAP31):c.1065= (p.Val355=) rs4688001
NM_020754.4(ARHGAP31):c.1178A>G (p.Lys393Arg) rs574813801
NM_020754.4(ARHGAP31):c.1184A>G (p.Glu395Gly) rs760929413
NM_020754.4(ARHGAP31):c.1307G>A (p.Arg436Gln) rs752035106
NM_020754.4(ARHGAP31):c.1371G>T (p.Ser457=) rs753753846
NM_020754.4(ARHGAP31):c.1430C>T (p.Pro477Leu) rs200233879
NM_020754.4(ARHGAP31):c.1491C>A (p.Arg497=) rs61747387
NM_020754.4(ARHGAP31):c.1533A>G (p.Thr511=) rs77678258
NM_020754.4(ARHGAP31):c.1538C>T (p.Pro513Leu) rs886057800
NM_020754.4(ARHGAP31):c.1614A>G (p.Glu538=) rs61744411
NM_020754.4(ARHGAP31):c.1618A>G (p.Lys540Glu) rs61744410
NM_020754.4(ARHGAP31):c.1700C>T (p.Pro567Leu) rs61744178
NM_020754.4(ARHGAP31):c.1701G>A (p.Pro567=) rs2305249
NM_020754.4(ARHGAP31):c.1823C>T (p.Pro608Leu) rs773084870
NM_020754.4(ARHGAP31):c.1926+11T>C rs1463138
NM_020754.4(ARHGAP31):c.1926+13C>A rs140274779
NM_020754.4(ARHGAP31):c.1926+5A>G rs1463139
NM_020754.4(ARHGAP31):c.203+6C>T rs141911639
NM_020754.4(ARHGAP31):c.2036C>T (p.Thr679Ile) rs61736796
NM_020754.4(ARHGAP31):c.2180C>T (p.Thr727Ile) rs539048828
NM_020754.4(ARHGAP31):c.2359C>G (p.Pro787Ala) rs186621177
NM_020754.4(ARHGAP31):c.2359C>T (p.Pro787Ser) rs186621177
NM_020754.4(ARHGAP31):c.2407G>A (p.Gly803Ser) rs3732413
NM_020754.4(ARHGAP31):c.2412G>A (p.Pro804=) rs776194035
NM_020754.4(ARHGAP31):c.2497C>T (p.Leu833Phe) rs201970872
NM_020754.4(ARHGAP31):c.2568G>A (p.Gly856=) rs770529130
NM_020754.4(ARHGAP31):c.2777C>T (p.Ala926Val) rs771980065
NM_020754.4(ARHGAP31):c.2778G>A (p.Ala926=) rs61740281
NM_020754.4(ARHGAP31):c.2814G>T (p.Gln938His) rs201519258
NM_020754.4(ARHGAP31):c.2940A>G (p.Thr980=) rs746965144
NM_020754.4(ARHGAP31):c.3104C>T (p.Thr1035Ile) rs201997376
NM_020754.4(ARHGAP31):c.3179G>A (p.Gly1060Asp) rs886057801
NM_020754.4(ARHGAP31):c.3256G>A (p.Ala1086Thr) rs61744168
NM_020754.4(ARHGAP31):c.3458A>G (p.Asp1153Gly) rs184040818
NM_020754.4(ARHGAP31):c.349-7T>G rs200397968
NM_020754.4(ARHGAP31):c.349-9_349-7del rs771235886
NM_020754.4(ARHGAP31):c.3615C>T (p.Pro1205=) rs3732414
NM_020754.4(ARHGAP31):c.3801C>T (p.Pro1267=) rs200959673
NM_020754.4(ARHGAP31):c.3802G>A (p.Gly1268Arg) rs149658506
NM_020754.4(ARHGAP31):c.384G>C (p.Leu128=) rs150339878
NM_020754.4(ARHGAP31):c.3876A>G (p.Pro1292=) rs886057802
NM_020754.4(ARHGAP31):c.3953G>T (p.Gly1318Val) rs529703977
NM_020754.4(ARHGAP31):c.3983G>A (p.Arg1328Gln) rs199708581
NM_020754.4(ARHGAP31):c.4084C>G (p.Pro1362Ala) rs376066861
NM_020754.4(ARHGAP31):c.4096G>A (p.Val1366Met) rs3796360
NM_020754.4(ARHGAP31):c.4110G>A (p.Lys1370=) rs76054211
NM_020754.4(ARHGAP31):c.4132A>G (p.Ser1378Gly) rs193198313
NM_020754.4(ARHGAP31):c.432-7A>G rs10049221
NM_020754.4(ARHGAP31):c.435C>G (p.Thr145=) rs201927115
NM_020754.4(ARHGAP31):c.436T>C (p.Leu146=) rs758994452
NM_020754.4(ARHGAP31):c.473C>T (p.Ser158Phe) rs779651681
NM_020754.4(ARHGAP31):c.540-6C>T rs16829782
NM_020754.4(ARHGAP31):c.662C>T (p.Pro221Leu) rs751793
NM_020754.4(ARHGAP31):c.820C>T (p.Pro274Ser) rs139600783
NM_020754.4(ARHGAP31):c.843C>T (p.Gly281=) rs886057799
NM_020754.4(ARHGAP31):c.848T>A (p.Leu283His) rs773314411
NM_020754.4(ARHGAP31):c.881+7G>A rs78837524
NM_020754.4(ARHGAP31):c.936T>C (p.Arg312=) rs200813566

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