List of variants reported as pathogenic for Alagille syndrome due to a JAG1 point mutation by 3billion

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000214.3(JAG1):c.1713del (p.Cys572fs)	rs1555828546
NM_000214.3(JAG1):c.2078_2079del (p.Asp692_Cys693insTer)	rs2067301859
NM_000214.3(JAG1):c.2230C>T (p.Arg744Ter)	rs863223655
NM_000214.3(JAG1):c.2274_2275del (p.Val760fs)	rs2514512962
NM_000214.3(JAG1):c.2650C>T (p.Gln884Ter)	rs2122597239
NM_000214.3(JAG1):c.550C>T (p.Arg184Cys)	rs121918350

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