ClinVar Miner

List of variants reported as likely pathogenic by Centre of Medical Genetics, University of Antwerp

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Total variants: 6
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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.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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