List of variants reported as likely pathogenic for Alagille syndrome due to a JAG1 point mutation by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000214.3(JAG1):c.1644del (p.Cys549fs)	rs2514516628
NM_000214.3(JAG1):c.2085_2101del (p.Gly696fs)	rs2514513565
NM_000214.3(JAG1):c.2236_2237del (p.Asn745_Ser746insTer)
NM_000214.3(JAG1):c.3067del (p.Asp1023fs)	rs863223677

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