ClinVar Miner

List of variants studied for Adams-Oliver syndrome 4

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 135
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HGVS dbSNP gnomAD frequency
NM_001278689.2(EOGT):c.1084-19C>T rs4855541 0.37167
NM_001278689.2(EOGT):c.465A>G (p.Arg155=) rs6781612 0.31041
NM_001278689.2(EOGT):c.210+5G>A rs56761230 0.27401
NM_001278689.2(EOGT):c.1084-14C>G rs4855540 0.22389
NM_001278689.2(EOGT):c.912T>C (p.Tyr304=) rs13085120 0.15363
NM_001278689.2(EOGT):c.1213A>G (p.Arg405Gly) rs35545453 0.02119
NM_001278689.2(EOGT):c.1170A>G (p.Lys390=) rs114914860 0.01363
NM_001278689.2(EOGT):c.562A>T (p.Lys188Ter) rs116711473 0.00844
NM_001278689.2(EOGT):c.620+17G>A rs144884919 0.00611
NM_001278689.2(EOGT):c.783C>T (p.His261=) rs147327086 0.00355
NM_001278689.2(EOGT):c.1237C>T (p.Leu413=) rs115592862 0.00337
NM_001278689.2(EOGT):c.122G>T (p.Arg41Leu) rs116007086 0.00262
NM_001278689.2(EOGT):c.1305C>T (p.Phe435=) rs527394057 0.00109
NM_001278689.2(EOGT):c.1575T>G (p.Asp525Glu) rs140481649 0.00067
NM_001278689.2(EOGT):c.621-14A>T rs202028314 0.00062
NM_001278689.2(EOGT):c.252A>G (p.Lys84=) rs150080769 0.00038
NM_001278689.2(EOGT):c.71C>G (p.Pro24Arg) rs140016031 0.00038
NM_001278689.2(EOGT):c.50G>A (p.Ser17Asn) rs139168099 0.00031
NM_001278689.2(EOGT):c.516-9A>G rs374408350 0.00023
NM_001278689.2(EOGT):c.1437+11A>G rs377709151 0.00019
NM_001278689.2(EOGT):c.591A>G (p.Glu197=) rs576952007 0.00014
NM_001278689.2(EOGT):c.300C>T (p.Val100=) rs371677485 0.00013
NM_001278689.2(EOGT):c.807C>T (p.Asp269=) rs200904493 0.00013
NM_001278689.2(EOGT):c.754G>A (p.Asp252Asn) rs149776692 0.00012
NM_001278689.2(EOGT):c.305T>C (p.Met102Thr) rs201325214 0.00011
NM_001278689.2(EOGT):c.516-18T>C rs371691021 0.00011
NM_001278689.2(EOGT):c.816C>T (p.Ile272=) rs554241529 0.00011
NM_001278689.2(EOGT):c.176C>G (p.Thr59Ser) rs139295083 0.00010
NM_001278689.2(EOGT):c.1129C>T (p.Arg377Trp) rs377612780 0.00009
NM_001278689.2(EOGT):c.421-7C>T rs770810315 0.00009
NM_001278689.2(EOGT):c.315G>A (p.Thr105=) rs755939220 0.00008
NM_001278689.2(EOGT):c.1335-1G>A rs185181819 0.00006
NM_001278689.2(EOGT):c.624T>C (p.Phe208=) rs371892977 0.00006
NM_001278689.2(EOGT):c.1114C>T (p.Arg372Trp) rs186870285 0.00005
NM_001278689.2(EOGT):c.1215-18T>G rs550137927 0.00005
NM_001278689.2(EOGT):c.311+1G>T rs369583084 0.00005
NM_001278689.2(EOGT):c.421-19T>C rs774998840 0.00005
NM_001278689.2(EOGT):c.1355G>A (p.Arg452His) rs193201126 0.00004
NM_001278689.2(EOGT):c.1408C>T (p.Arg470Trp) rs541573152 0.00004
NM_001278689.2(EOGT):c.1458G>A (p.Gly486=) rs191230655 0.00004
NM_001278689.2(EOGT):c.599G>A (p.Arg200His) rs146762052 0.00004
NM_001278689.2(EOGT):c.1460A>G (p.Glu487Gly) rs1011335550 0.00003
NM_001278689.2(EOGT):c.1467G>A (p.Pro489=) rs188086670 0.00003
NM_001278689.2(EOGT):c.280T>C (p.Tyr94His) rs369664601 0.00003
NM_001278689.2(EOGT):c.421-8A>G rs776243549 0.00003
NM_001278689.2(EOGT):c.515+7T>A rs764750079 0.00003
NM_001278689.2(EOGT):c.516-8T>C rs766271301 0.00003
NM_001278689.2(EOGT):c.620+16C>T rs370215381 0.00003
NM_001278689.2(EOGT):c.728-7A>C rs778701502 0.00003
NM_001278689.2(EOGT):c.1130G>A (p.Arg377Gln) rs587776995 0.00002
NM_001278689.2(EOGT):c.1387G>A (p.Val463Ile) rs764559304 0.00002
NM_001278689.2(EOGT):c.1396A>G (p.Ile466Val) rs775338549 0.00002
NM_001278689.2(EOGT):c.1442A>G (p.His481Arg) rs527256891 0.00002
NM_001278689.2(EOGT):c.1534G>A (p.Val512Ile) rs562651560 0.00002
NM_001278689.2(EOGT):c.312-20A>G rs144575839 0.00002
NM_001278689.2(EOGT):c.334G>A (p.Glu112Lys) rs200038187 0.00002
NM_001278689.2(EOGT):c.430A>G (p.Ser144Gly) rs1020006394 0.00002
NM_001278689.2(EOGT):c.587C>T (p.Ser196Phe) rs778686242 0.00002
NM_001278689.2(EOGT):c.647A>G (p.Gln216Arg) rs748962984 0.00002
NM_001278689.2(EOGT):c.1153-17T>G rs538774454 0.00001
NM_001278689.2(EOGT):c.1153-3C>T rs1465028816 0.00001
NM_001278689.2(EOGT):c.1158A>G (p.Val386=) rs758054412 0.00001
NM_001278689.2(EOGT):c.1214+16T>C rs769801252 0.00001
NM_001278689.2(EOGT):c.1368C>T (p.Asp456=) rs750519290 0.00001
NM_001278689.2(EOGT):c.1386C>T (p.Gly462=) rs1575701273 0.00001
NM_001278689.2(EOGT):c.1412A>G (p.Gln471Arg) rs771925127 0.00001
NM_001278689.2(EOGT):c.1440C>T (p.Gly480=) rs778355816 0.00001
NM_001278689.2(EOGT):c.1488C>T (p.Phe496=) rs771945573 0.00001
NM_001278689.2(EOGT):c.1524T>C (p.Ala508=) rs1575699109 0.00001
NM_001278689.2(EOGT):c.1531C>T (p.His511Tyr) rs2090509881 0.00001
NM_001278689.2(EOGT):c.293G>A (p.Ser98Asn) rs777150936 0.00001
NM_001278689.2(EOGT):c.308G>T (p.Gly103Val) rs778771949 0.00001
NM_001278689.2(EOGT):c.495C>T (p.Asn165=) rs763682959 0.00001
NM_001278689.2(EOGT):c.515+17T>C rs540955313 0.00001
NM_001278689.2(EOGT):c.548T>A (p.Ile183Asn) rs773091065 0.00001
NM_001278689.2(EOGT):c.585G>A (p.Thr195=) rs761982280 0.00001
NM_001278689.2(EOGT):c.620+19A>T rs574412438 0.00001
NM_001278689.2(EOGT):c.663T>A (p.Pro221=) rs779628950 0.00001
NM_001278689.2(EOGT):c.730G>T (p.Val244Phe) rs1386656563 0.00001
NM_001278689.2(EOGT):c.831+2T>C rs1559604548 0.00001
NC_000003.11:g.(?_69058768)_(69058997_?)dup
NC_000003.11:g.(?_69058895)_(69061253_?)del
NM_001278689.2(EOGT):c.1074del (p.Gly359fs) rs587776994
NM_001278689.2(EOGT):c.1084-8G>T rs1251218119
NM_001278689.2(EOGT):c.1137C>A (p.Ile379=) rs768193075
NM_001278689.2(EOGT):c.1152+10del rs1284610671
NM_001278689.2(EOGT):c.1152+14A>G
NM_001278689.2(EOGT):c.1152+4A>G rs1329889362
NM_001278689.2(EOGT):c.118A>T (p.Ile40Phe) rs2107402281
NM_001278689.2(EOGT):c.1209G>A (p.Lys403=) rs981266167
NM_001278689.2(EOGT):c.1234C>T (p.Gln412Ter) rs1379880963
NM_001278689.2(EOGT):c.124T>C (p.Leu42=) rs2091525759
NM_001278689.2(EOGT):c.1404G>A (p.Trp468Ter) rs1179649831
NM_001278689.2(EOGT):c.1411C>T (p.Gln471Ter) rs777402465
NM_001278689.2(EOGT):c.1437+15C>G rs377724323
NM_001278689.2(EOGT):c.1438-8T>A
NM_001278689.2(EOGT):c.1440_1441delinsTT (p.His481Tyr) rs2471373668
NM_001278689.2(EOGT):c.1443C>A (p.His481Gln) rs2471373594
NM_001278689.2(EOGT):c.1446T>C (p.His482=) rs2471373565
NM_001278689.2(EOGT):c.1455G>C (p.Leu485=) rs2471373369
NM_001278689.2(EOGT):c.164G>A (p.Arg55Lys) rs1417050926
NM_001278689.2(EOGT):c.202C>G (p.Pro68Ala) rs146952006
NM_001278689.2(EOGT):c.204A>G (p.Pro68=)
NM_001278689.2(EOGT):c.210+10A>C rs1410315129
NM_001278689.2(EOGT):c.211-9A>G rs2471640651
NM_001278689.2(EOGT):c.300C>G (p.Val100=) rs371677485
NM_001278689.2(EOGT):c.305T>A (p.Met102Lys) rs201325214
NM_001278689.2(EOGT):c.311+12del rs2471639258
NM_001278689.2(EOGT):c.312-10T>C rs1559615651
NM_001278689.2(EOGT):c.350A>G (p.Lys117Arg) rs766820298
NM_001278689.2(EOGT):c.357T>C (p.Ala119=)
NM_001278689.2(EOGT):c.404G>A (p.Cys135Tyr) rs1247059195
NM_001278689.2(EOGT):c.404G>C (p.Cys135Ser) rs1247059195
NM_001278689.2(EOGT):c.421-16T>A rs2471614330
NM_001278689.2(EOGT):c.421-6C>T rs2091409901
NM_001278689.2(EOGT):c.455A>T (p.Gln152Leu) rs2091407941
NM_001278689.2(EOGT):c.45A>C (p.Ser15=) rs2471650715
NM_001278689.2(EOGT):c.469A>G (p.Thr157Ala) rs1380576405
NM_001278689.2(EOGT):c.471C>A (p.Thr157=) rs560607406
NM_001278689.2(EOGT):c.516-23_516-19del rs373543747
NM_001278689.2(EOGT):c.562_563inv (p.Lys188Leu)
NM_001278689.2(EOGT):c.616T>A (p.Ser206Thr) rs2091384133
NM_001278689.2(EOGT):c.618A>T (p.Ser206=) rs373952598
NM_001278689.2(EOGT):c.620G>C (p.Trp207Ser) rs587776993
NM_001278689.2(EOGT):c.621-14del rs779286473
NM_001278689.2(EOGT):c.621-2A>T rs1312622774
NM_001278689.2(EOGT):c.701C>A (p.Pro234Gln) rs766531917
NM_001278689.2(EOGT):c.701C>G (p.Pro234Arg) rs766531917
NM_001278689.2(EOGT):c.727+16T>G rs2107336057
NM_001278689.2(EOGT):c.78_81del (p.His27fs) rs771160630
NM_001278689.2(EOGT):c.79C>T (p.His27Tyr) rs1256790610
NM_001278689.2(EOGT):c.831+10A>T rs1559604529
NM_001278689.2(EOGT):c.831+19T>A rs2471555473
NM_001278689.2(EOGT):c.831+1G>A rs746076695
NM_001278689.2(EOGT):c.912delinsAC (p.Tyr304Ter) rs2107224808

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