ClinVar Miner

List of variants reported as likely pathogenic for Adams-Oliver syndrome

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NM_001278689.2(EOGT):c.1074del (p.Gly359fs) rs587776994
NM_001278689.2(EOGT):c.831+2T>C rs1559604548
NM_005349.3(RBPJ):c.193A>G (p.Arg65Gly) rs1553878211
NM_005349.3(RBPJ):c.196T>G (p.Phe66Val) rs1553880029
NM_005349.3(RBPJ):c.996C>A (p.Ser332Arg) rs1553882550
NM_017617.5(NOTCH1):c.1220C>G (p.Pro407Arg) rs754529382
NM_017617.5(NOTCH1):c.1285T>C (p.Cys429Arg) rs587777736
NM_017617.5(NOTCH1):c.1345T>C (p.Cys449Arg) rs864622057
NM_017617.5(NOTCH1):c.1367G>A (p.Cys456Tyr) rs864622058
NM_017617.5(NOTCH1):c.1393G>A (p.Ala465Thr) rs1057523819
NM_017617.5(NOTCH1):c.4120T>C (p.Cys1374Arg) rs864622060
NM_017617.5(NOTCH1):c.4549G>A (p.Asp1517Asn) rs1554727954
NM_017617.5(NOTCH1):c.743-1G>T rs587777735
NM_019074.4(DLL4):c.949A>C (p.Thr317Pro) rs1555393027
NM_020812.4(DOCK6):c.1362_1365del (p.Thr455fs) rs730882238
NM_020812.4(DOCK6):c.3562C>T (p.Gln1188Ter) rs372751467
NM_020812.4(DOCK6):c.4469G>A (p.Arg1490Gln) rs200472954
NM_020812.4(DOCK6):c.4576C>T (p.Arg1526Ter) rs374530179
Single allele

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