ClinVar Miner

List of variants reported as likely pathogenic for Adams-Oliver syndrome by Centre of Medical Genetics, University of Antwerp

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_015874.6(RBPJ):c.154A>G (p.Arg52Gly) rs1553878211
NM_015874.6(RBPJ):c.157T>G (p.Phe53Val) rs1553880029
NM_015874.6(RBPJ):c.957C>A (p.Ser319Arg) rs1553882550
NM_017617.5(NOTCH1):c.1393G>A (p.Ala465Thr) rs1057523819
NM_017617.5(NOTCH1):c.4549G>A (p.Asp1517Asn) rs1554727954
NM_019074.4(DLL4):c.949A>C (p.Thr317Pro) rs1555393027

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