ClinVar Miner

List of variants reported as pathogenic for Adams-Oliver syndrome

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 96
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HGVS dbSNP gnomAD frequency
NM_020812.4(DOCK6):c.5939+2T>C rs201387914 0.00019
NM_020812.4(DOCK6):c.3190_3191del (p.Leu1064fs) rs747575528 0.00010
NM_001278689.2(EOGT):c.1335-1G>A rs185181819 0.00006
NM_001278689.2(EOGT):c.311+1G>T rs369583084 0.00005
NM_001278689.2(EOGT):c.1130G>A (p.Arg377Gln) rs587776995 0.00002
NM_017617.5(NOTCH1):c.1669+5G>A rs771590616 0.00001
NM_017617.5(NOTCH1):c.2704C>T (p.Arg902Cys) rs1448345366 0.00001
NM_020812.4(DOCK6):c.1245dup (p.Asp416Ter) rs1226716539 0.00001
NM_020812.4(DOCK6):c.4106+1G>A rs1192375765 0.00001
NC_000009.11:g.(?_138392557)_(141016451_?)del
NC_000009.11:g.(?_138683633)_(139440248_?)del
NC_000009.11:g.(?_139404165)_(139405277_?)del
NC_000009.12:g.(?_136496061)_(136523989_?)del
NC_000009.12:g.136545168_136630028del
NM_001278689.2(EOGT):c.1074del (p.Gly359fs) rs587776994
NM_001278689.2(EOGT):c.1234C>T (p.Gln412Ter)
NM_001278689.2(EOGT):c.404G>A (p.Cys135Tyr) rs1247059195
NM_001278689.2(EOGT):c.620G>C (p.Trp207Ser) rs587776993
NM_001278689.2(EOGT):c.78_81del (p.His27fs) rs771160630
NM_015874.6(RBPJ):c.149A>G (p.Glu50Gly) rs387907270
NM_015874.6(RBPJ):c.466A>G (p.Lys156Glu) rs387907271
NM_017617.5(NOTCH1):c.1017_1018del (p.Ala340fs) rs1843317673
NM_017617.5(NOTCH1):c.1116_1118delinsAC (p.Asn373fs) rs2133369937
NM_017617.5(NOTCH1):c.1285T>C (p.Cys429Arg) rs587777736
NM_017617.5(NOTCH1):c.1342C>T (p.Arg448Ter) rs869025494
NM_017617.5(NOTCH1):c.1343G>A (p.Arg448Gln) rs864622056
NM_017617.5(NOTCH1):c.1396del (p.Thr466fs) rs1564199476
NM_017617.5(NOTCH1):c.1537C>T (p.Gln513Ter)
NM_017617.5(NOTCH1):c.1542C>A (p.Cys514Ter) rs779058908
NM_017617.5(NOTCH1):c.1649dup (p.Tyr550Ter) rs864622059
NM_017617.5(NOTCH1):c.1784_1787del (p.Tyr595fs) rs2133363840
NM_017617.5(NOTCH1):c.1800_1801dup (p.Glu601fs) rs1843252720
NM_017617.5(NOTCH1):c.1935_1936del (p.Ala646fs) rs1554729443
NM_017617.5(NOTCH1):c.2365C>T (p.Gln789Ter) rs1554729118
NM_017617.5(NOTCH1):c.2380G>T (p.Glu794Ter) rs1554729113
NM_017617.5(NOTCH1):c.2448dup (p.Cys817fs) rs1589064285
NM_017617.5(NOTCH1):c.2759dup (p.Ser921fs)
NM_017617.5(NOTCH1):c.2880C>A (p.Cys960Ter)
NM_017617.5(NOTCH1):c.3266G>A (p.Trp1089Ter) rs1554728428
NM_017617.5(NOTCH1):c.3281G>A (p.Cys1094Tyr) rs1554728424
NM_017617.5(NOTCH1):c.3319C>T (p.Arg1107Ter) rs41309764
NM_017617.5(NOTCH1):c.3684del (p.Val1229fs)
NM_017617.5(NOTCH1):c.3792_3793del (p.Cys1264_Glu1265delinsTer)
NM_017617.5(NOTCH1):c.4021G>T (p.Glu1341Ter)
NM_017617.5(NOTCH1):c.4071C>A (p.Cys1357Ter) rs1564191302
NM_017617.5(NOTCH1):c.410C>A (p.Ser137Ter)
NM_017617.5(NOTCH1):c.4120T>C (p.Cys1374Arg) rs864622060
NM_017617.5(NOTCH1):c.4127del (p.Gly1376fs) rs1589058964
NM_017617.5(NOTCH1):c.415C>T (p.Gln139Ter) rs1554730670
NM_017617.5(NOTCH1):c.4222G>T (p.Glu1408Ter) rs587778569
NM_017617.5(NOTCH1):c.428del (p.Pro143fs) rs2133377982
NM_017617.5(NOTCH1):c.4363C>T (p.Gln1455Ter) rs2133339552
NM_017617.5(NOTCH1):c.4396C>T (p.Gln1466Ter) rs2133339381
NM_017617.5(NOTCH1):c.4483C>T (p.Gln1495Ter) rs1036363986
NM_017617.5(NOTCH1):c.4483_4504del (p.Gln1495fs)
NM_017617.5(NOTCH1):c.4487G>A (p.Cys1496Tyr) rs587781259
NM_017617.5(NOTCH1):c.4549G>A (p.Asp1517Asn) rs1554727954
NM_017617.5(NOTCH1):c.4663G>T (p.Glu1555Ter) rs746342893
NM_017617.5(NOTCH1):c.4668G>A (p.Trp1556Ter) rs2133337500
NM_017617.5(NOTCH1):c.4739dup (p.Met1580fs) rs864622061
NM_017617.5(NOTCH1):c.5310_5314dup (p.Gly1772fs)
NM_017617.5(NOTCH1):c.550C>T (p.Gln184Ter) rs1589072024
NM_017617.5(NOTCH1):c.5906dup (p.Ser1970fs)
NM_017617.5(NOTCH1):c.5965G>A (p.Asp1989Asn) rs587777734
NM_017617.5(NOTCH1):c.6049_6050del (p.Ser2017fs) rs864622063
NM_017617.5(NOTCH1):c.743-1G>T rs587777735
NM_017617.5(NOTCH1):c.763_773del (p.Glu255fs) rs2133372831
NM_017617.5(NOTCH1):c.794_797delinsCC (p.Asn265fs) rs1554730184
NM_019074.4(DLL4):c.1168T>C (p.Cys390Arg) rs796065347
NM_019074.4(DLL4):c.1169G>A (p.Cys390Tyr) rs796065346
NM_019074.4(DLL4):c.1310G>C (p.Cys437Ser) rs1555393125
NM_019074.4(DLL4):c.1365C>G (p.Cys455Trp) rs796065345
NM_019074.4(DLL4):c.1397G>A (p.Cys466Tyr) rs1247027543
NM_019074.4(DLL4):c.1660C>T (p.Gln554Ter) rs796065344
NM_019074.4(DLL4):c.1672C>T (p.Arg558Ter) rs61750844
NM_019074.4(DLL4):c.1825C>T (p.Gln609Ter) rs1555393182
NM_019074.4(DLL4):c.1857_1864del (p.Pro621fs) rs1892853569
NM_019074.4(DLL4):c.361G>C (p.Ala121Pro) rs796065350
NM_019074.4(DLL4):c.556C>T (p.Arg186Cys) rs796065348
NM_019074.4(DLL4):c.583T>C (p.Phe195Leu) rs796065351
NM_019074.4(DLL4):c.799C>A (p.Pro267Thr) rs796065349
NM_020754.4(ARHGAP31):c.2047C>T (p.Gln683Ter) rs387907031
NM_020754.4(ARHGAP31):c.2182C>T (p.Gln728Ter) rs1553768038
NM_020754.4(ARHGAP31):c.3260del (p.Lys1087fs) rs1559999373
NM_020812.4(DOCK6):c.1300del (p.Gln434fs) rs2147852182
NM_020812.4(DOCK6):c.1362_1365del (p.Thr455fs) rs730882238
NM_020812.4(DOCK6):c.1396C>T (p.Arg466Ter) rs1198436520
NM_020812.4(DOCK6):c.2520dup (p.Arg841fs) rs397509398
NM_020812.4(DOCK6):c.3154G>A (p.Glu1052Lys) rs774877657
NM_020812.4(DOCK6):c.4107-1G>C rs397509399
NM_020812.4(DOCK6):c.4824_4828del (p.Glu1609fs) rs1555826472
NM_020812.4(DOCK6):c.550C>T (p.Arg184Ter)
NM_020812.4(DOCK6):c.5616dup (p.Lys1873Ter)
NM_020812.4(DOCK6):c.5783_5790del (p.Lys1928fs) rs1232184969
NM_020812.4(DOCK6):c.705C>G (p.Tyr235Ter) rs1555697020
NM_020812.4(DOCK6):c.788T>A (p.Val263Asp) rs879255610

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