ClinVar Miner

List of variants reported as pathogenic for Adams-Oliver syndrome by OMIM

Included ClinVar conditions (8):
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ClinVar version:
Total variants: 28
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HGVS dbSNP
DOCK6, 1-BP DUP, 1245T
NM_001278689.2(EOGT):c.1074del (p.Gly359fs) rs587776994
NM_001278689.2(EOGT):c.1130G>A (p.Arg377Gln) rs587776995
NM_001278689.2(EOGT):c.620G>C (p.Trp207Ser) rs587776993
NM_005349.3(RBPJ):c.188A>G (p.Glu63Gly) rs387907270
NM_005349.3(RBPJ):c.505A>G (p.Lys169Glu) rs387907271
NM_017617.5(NOTCH1):c.1285T>C (p.Cys429Arg) rs587777736
NM_017617.5(NOTCH1):c.1649dup (p.Tyr550Ter) rs864622059
NM_017617.5(NOTCH1):c.4120T>C (p.Cys1374Arg) rs864622060
NM_017617.5(NOTCH1):c.4487G>A (p.Cys1496Tyr) rs587781259
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_019074.4(DLL4):c.1168T>C (p.Cys390Arg) rs796065347
NM_019074.4(DLL4):c.1169G>A (p.Cys390Tyr) rs796065346
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.361G>C (p.Ala121Pro) rs796065350
NM_019074.4(DLL4):c.556C>T (p.Arg186Cys) rs796065348
NM_020754.4(ARHGAP31):c.2047C>T (p.Gln683Ter) rs387907031
NM_020754.4(ARHGAP31):c.3260del (p.Lys1087fs) rs1559999373
NM_020812.4(DOCK6):c.1362_1365del (p.Thr455fs) rs730882238
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.5939+2T>C rs201387914
NM_020812.4(DOCK6):c.788T>A (p.Val263Asp) rs879255610
NOTCH1, 85-KB DEL

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