ClinVar Miner

List of variants reported as likely pathogenic for Alagille syndrome 1

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Total variants: 5
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HGVS dbSNP
NM_000214.3(JAG1):c.1156G>A (p.Gly386Arg) rs863223650
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser) rs527236046
NM_000214.3(JAG1):c.2385del (p.Thr796fs) rs1568793309
NM_000214.3(JAG1):c.634T>C (p.Cys212Arg) rs1555829660
NM_000214.3(JAG1):c.821G>A (p.Gly274Asp) rs28939668

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