ClinVar Miner

List of variants reported as pathogenic for Alagille syndrome due to a JAG1 point mutation by MGZ Medical Genetics Center

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_000214.3(JAG1):c.1899_1900del (p.Cys633_Glu634delinsTer)	rs1555828321

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