ClinVar Miner

List of variants in gene JAG1 reported as uncertain significance for Arteriohepatic dysplasia

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Gene type:
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Total variants: 45
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HGVS dbSNP
NM_000214.2(JAG1):c.*1093_*1097delTATCA rs886056509
NM_000214.2(JAG1):c.*1133_*1136delACTT rs886056508
NM_000214.2(JAG1):c.*1212_*1214delACT rs886056507
NM_000214.2(JAG1):c.*1533_*1534delTG rs765273169
NM_000214.2(JAG1):c.*647_*649delAAT rs572952606
NM_000214.2(JAG1):c.*967_*970delGTTT rs748163677
NM_000214.2(JAG1):c.1344C>T (p.Asp448=) rs754081766
NM_000214.3(JAG1):c.*1224G>A rs886056506
NM_000214.3(JAG1):c.*1637A>G rs886056505
NM_000214.3(JAG1):c.*21C>T rs554327524
NM_000214.3(JAG1):c.*253C>T rs780887274
NM_000214.3(JAG1):c.*297C>T rs575525743
NM_000214.3(JAG1):c.*378T>G rs886056512
NM_000214.3(JAG1):c.*398T>C rs562655817
NM_000214.3(JAG1):c.*401C>T rs886056511
NM_000214.3(JAG1):c.*641C>A rs866626696
NM_000214.3(JAG1):c.*6C>T rs376881523
NM_000214.3(JAG1):c.*914G>A rs111277443
NM_000214.3(JAG1):c.*970T>C rs886056510
NM_000214.3(JAG1):c.-105C>G rs886056515
NM_000214.3(JAG1):c.-129C>T rs886056516
NM_000214.3(JAG1):c.-27C>G rs886056513
NM_000214.3(JAG1):c.-364T>G rs886056517
NM_000214.3(JAG1):c.-375dup rs201660680
NM_000214.3(JAG1):c.-384T>G rs559044448
NM_000214.3(JAG1):c.-386dup rs886056519
NM_000214.3(JAG1):c.-482G>A rs886056520
NM_000214.3(JAG1):c.-483C>T rs867504722
NM_000214.3(JAG1):c.-507G>A rs747888489
NM_000214.3(JAG1):c.-73G>C rs886056514
NM_000214.3(JAG1):c.1721-15A>G rs753524030
NM_000214.3(JAG1):c.1826C>T (p.Ser609Leu) rs199505265
NM_000214.3(JAG1):c.2073T>C (p.Cys691=) rs200648035
NM_000214.3(JAG1):c.2199C>T (p.Gly733=) rs756062969
NM_000214.3(JAG1):c.2300C>T (p.Thr767Met) rs140330283
NM_000214.3(JAG1):c.2590A>G (p.Ile864Val) rs142742183
NM_000214.3(JAG1):c.282C>T (p.Phe94=) rs772592163
NM_000214.3(JAG1):c.3297G>A (p.Pro1099=) rs748849177
NM_000214.3(JAG1):c.3329A>C (p.Asn1110Thr) rs150811951
NM_000214.3(JAG1):c.3343G>A (p.Val1115Met) rs148373907
NM_000214.3(JAG1):c.3521C>T (p.Pro1174Leu) rs775363555
NM_000214.3(JAG1):c.3555C>T (p.Pro1185=) rs142017684
NM_000214.3(JAG1):c.3570G>A (p.Pro1190=) rs201572666
NM_000214.3(JAG1):c.756-14C>T rs757351921
NM_000214.3(JAG1):c.894T>C (p.Asn298=) rs149897344

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