ClinVar Miner

List of variants in gene JAG1 studied for Arteriohepatic dysplasia

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000214.3(JAG1):c.*253C>T rs780887274 0.00014
NM_000214.3(JAG1):c.2590A>G (p.Ile864Val) rs142742183 0.00004
NC_000020.11:g.10674058G>T rs191409481
NM_000214.3(JAG1):c.*1093_*1097del rs886056509
NM_000214.3(JAG1):c.*1133_*1136del rs886056508
NM_000214.3(JAG1):c.*1212_*1214del rs886056507
NM_000214.3(JAG1):c.*1531TG[1] rs765273169
NM_000214.3(JAG1):c.*644AAT[1] rs572952606
NM_000214.3(JAG1):c.*959GTTT[2] rs748163677
NM_000214.3(JAG1):c.-299AAG[1] rs147400796
NM_000214.3(JAG1):c.-375dup rs201660680
NM_000214.3(JAG1):c.-386dup rs886056519
NM_000214.3(JAG1):c.2122_2125del (p.Gln708fs) rs727504412
NM_000214.3(JAG1):c.3007_3013dup (p.Ser1005Ter) rs1568791694
NM_000214.3(JAG1):c.3168_3169del (p.Arg1056fs) rs1555827650

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