ClinVar Miner

List of variants studied for Alagille syndrome due to a JAG1 point mutation by Molecular Diagnostics Laboratory, Seoul National University Hospital

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000214.3(JAG1):c.106G>A (p.Glu36Lys) rs2514538137
NM_000214.3(JAG1):c.213_214delinsC (p.Asp72fs) rs2514537935
NM_000214.3(JAG1):c.2210del (p.Gly737fs) rs2514513274
NM_000214.3(JAG1):c.341del (p.Gly114fs) rs2514537708
NM_000214.3(JAG1):c.699_700del (p.Ile233fs) rs2514524510
NM_000214.3(JAG1):c.702C>A (p.Cys234Ter) rs202109974
NM_000214.3(JAG1):c.74dup (p.Ala26fs) rs2514538931
NM_000214.3(JAG1):c.789_791del (p.Asp263_Lys264delinsGlu) rs2514521758

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