ClinVar Miner

List of variants in gene JAG1 reported by Ambry Genetics

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Gene type:
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Total variants: 31
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HGVS dbSNP
NM_000214.3(JAG1):c.1062C>T (p.Thr354=) rs201234509
NM_000214.3(JAG1):c.1146C>T (p.Asn382=) rs200133928
NM_000214.3(JAG1):c.133G>T (p.Val45Leu) rs183974372
NM_000214.3(JAG1):c.1352T>A (p.Ile451Asn) rs1178459436
NM_000214.3(JAG1):c.1866G>A (p.Thr622=) rs140624746
NM_000214.3(JAG1):c.2043G>A (p.Thr681=) rs151291264
NM_000214.3(JAG1):c.2214A>C (p.Thr738=) rs1801140
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln) rs147809756
NM_000214.3(JAG1):c.2286C>T (p.Asn762=) rs144190443
NM_000214.3(JAG1):c.2300C>T (p.Thr767Met) rs140330283
NM_000214.3(JAG1):c.2301G>A (p.Thr767=) rs147634857
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.2766C>T (p.Asp922=) rs2229895
NM_000214.3(JAG1):c.2778C>T (p.Phe926=) rs147793030
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196
NM_000214.3(JAG1):c.294C>T (p.Ser98=) rs79338570
NM_000214.3(JAG1):c.3140C>A (p.Ser1047Ter) rs267605834
NM_000214.3(JAG1):c.3417T>C (p.Tyr1139=) rs1051419
NM_000214.3(JAG1):c.3525G>A (p.Ala1175=) rs745431482
NM_000214.3(JAG1):c.3528C>T (p.Tyr1176=) rs1051421
NM_000214.3(JAG1):c.3555C>T (p.Pro1185=) rs142017684
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.765C>T (p.Tyr255=) rs1131695
NM_000214.3(JAG1):c.806C>T (p.Pro269Leu) rs797044956
NM_000214.3(JAG1):c.814G>A (p.Val272Ile) rs148990028
NM_000214.3(JAG1):c.909T>C (p.His303=) rs139574260
NM_000214.3(JAG1):c.924C>T (p.Asn308=) rs45575136
NM_000214.3(JAG1):c.925G>C (p.Gly309Arg) rs750195672

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