ClinVar Miner

List of variants studied for Alagille syndrome due to a JAG1 point mutation by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000214.3(JAG1):c.1527C>A (p.Phe509Leu) rs770377023 0.00004
NM_000214.3(JAG1):c.2048G>A (p.Arg683His) rs200929472 0.00001
NM_000214.3(JAG1):c.1181dup (p.Asn394fs) rs2514519192
NM_000214.3(JAG1):c.1807G>A (p.Gly603Arg)
NM_000214.3(JAG1):c.1823_1826del (p.Gln608fs) rs2122606213
NM_000214.3(JAG1):c.1961del (p.Ile654fs) rs2514514441
NM_000214.3(JAG1):c.2328dup (p.Pro777fs) rs2514512861
NM_000214.3(JAG1):c.396T>A (p.Tyr132Ter)
NM_000214.3(JAG1):c.95C>A (p.Ser32Ter) rs2122644940

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