ClinVar Miner

List of variants in gene JAG1 reported as benign for Isolated Nonsyndromic Congenital Heart Disease

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Total variants: 14
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HGVS dbSNP
NM_000214.3(JAG1):c.*1132T>G rs7828
NM_000214.3(JAG1):c.*1206del rs34134142
NM_000214.3(JAG1):c.*1572A>G rs8708
NM_000214.3(JAG1):c.*486del rs3842434
NM_000214.3(JAG1):c.*856dup rs3840074
NM_000214.3(JAG1):c.-385T>G rs1051412
NM_000214.3(JAG1):c.-433G>A rs73611723
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.3417T>C (p.Tyr1139=) rs1051419
NM_000214.3(JAG1):c.3528C>T (p.Tyr1176=) rs1051421
NM_000214.3(JAG1):c.440-15T>C rs2273060
NM_000214.3(JAG1):c.588C>T (p.Cys196=) rs1801138
NM_000214.3(JAG1):c.765C>T (p.Tyr255=) rs1131695

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