ClinVar Miner

List of variants studied for Alagille syndrome due to a JAG1 point mutation by MGZ Medical Genetics Center

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000214.3(JAG1):c.1223C>T (p.Thr408Met) rs773039210 0.00001
NM_000214.3(JAG1):c.1899_1900del (p.Cys633_Glu634delinsTer) rs1555828321
NM_000214.3(JAG1):c.3164T>A (p.Val1055Glu) rs2067265295

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