ClinVar Miner

List of variants reported as pathogenic for Alagille syndrome 1 by OMIM

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Total variants: 12
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JAG1, 1-BP INS, 684G
JAG1, 1329, T-G, +2
NM_000214.3(JAG1):c.110T>C (p.Leu37Ser) rs121918352
NM_000214.3(JAG1):c.1205dup (p.Gln403fs) rs35615084
NM_000214.3(JAG1):c.1485_1486del (p.Cys496fs) rs876660981
NM_000214.3(JAG1):c.1656del (p.Glu553fs) rs1568795820
NM_000214.3(JAG1):c.2091_2095GAAAG[1] (p.Gly699fs) rs886039393
NM_000214.3(JAG1):c.2639_2640del (p.Asp879_Cys880insTer) rs1568792286
NM_000214.3(JAG1):c.2916+1G>C rs1568791920
NM_000214.3(JAG1):c.550C>T (p.Arg184Cys) rs121918350
NM_000214.3(JAG1):c.551G>A (p.Arg184His) rs121918351
NM_000214.3(JAG1):c.691_692AG[1] (p.Arg231fs) rs876660978

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