ClinVar Miner

List of variants studied for Alagille syndrome due to a JAG1 point mutation by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000214.3(JAG1):c.1156G>A (p.Gly386Arg) rs863223650
NM_000214.3(JAG1):c.1815_1821delinsAGG (p.Cys605_Ser607delinsTer)
NM_000214.3(JAG1):c.2844del (p.Lys947_Cys948insTer)
NM_000214.3(JAG1):c.2898_2899dup (p.Lys967fs)
NM_000214.3(JAG1):c.3003_3006dup (p.Glu1003fs) rs2514508344
NM_000214.3(JAG1):c.3047T>C (p.Ile1016Thr)
NM_000214.3(JAG1):c.3048+1G>T rs876661121
NM_000214.3(JAG1):c.484_486del (p.Asn162del) rs2514526677
NM_000214.3(JAG1):c.550C>T (p.Arg184Cys) rs121918350
NM_000214.3(JAG1):c.559T>C (p.Cys187Arg) rs2514526553

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