ClinVar Miner

List of variants in gene JAG1 reported by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Gene type:
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Total variants: 14
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HGVS dbSNP
NM_000214.3(JAG1):c.2118_2121CAGT[1] (p.Gln708fs) rs727504412
NM_000214.3(JAG1):c.2214A>C (p.Thr738=) rs1801140
NM_000214.3(JAG1):c.2382C>T (p.Ser794=) rs56225585
NM_000214.3(JAG1):c.2612C>G (p.Pro871Arg) rs35761929
NM_000214.3(JAG1):c.267G>A (p.Gly89=) rs1051415
NM_000214.3(JAG1):c.270G>T (p.Gly90=) rs114048678
NM_000214.3(JAG1):c.3417= (p.Tyr1139=) rs1051419
NM_000214.3(JAG1):c.3528C>T (p.Tyr1176=) rs1051421
NM_000214.3(JAG1):c.3583A>G (p.Asn1195Asp) rs397515876
NM_000214.3(JAG1):c.436G>A (p.Val146Ile) rs6040067
NM_000214.3(JAG1):c.588C>T (p.Cys196=) rs1801138
NM_000214.3(JAG1):c.744A>G (p.Pro248=) rs10485741
NM_000214.3(JAG1):c.765= (p.Tyr255=) rs1131695
NM_000214.3(JAG1):c.924C>T (p.Asn308=) rs45575136

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