ClinVar Miner

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

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Total variants: 29
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HGVS dbSNP
NM_000214.3(JAG1):c.*1084G>C rs148175963
NM_000214.3(JAG1):c.*1493A>G rs78471165
NM_000214.3(JAG1):c.*1511dup rs571057258
NM_000214.3(JAG1):c.*563_*565del rs139536676
NM_000214.3(JAG1):c.*619C>T rs146144464
NM_000214.3(JAG1):c.*756A>G rs45534738
NM_000214.3(JAG1):c.-299_-297AAG[1] rs147400796
NM_000214.3(JAG1):c.-42G>T rs374222937
NM_000214.3(JAG1):c.-514G>C rs533596136
NM_000214.3(JAG1):c.-528C>A rs191409481
NM_000214.3(JAG1):c.133G>T (p.Val45Leu) rs183974372
NM_000214.3(JAG1):c.1349-11T>G rs80338240
NM_000214.3(JAG1):c.1439C>T (p.Ala480Val) rs149366993
NM_000214.3(JAG1):c.1578C>T (p.Ile526=) rs1801139
NM_000214.3(JAG1):c.1920C>T (p.Asn640=) rs372121353
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln) rs147809756
NM_000214.3(JAG1):c.2329C>T (p.Pro777Ser) rs202063628
NM_000214.3(JAG1):c.2344+15C>G rs200139177
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.2766C>T (p.Asp922=) rs2229895
NM_000214.3(JAG1):c.2917-7G>A rs201573066
NM_000214.3(JAG1):c.294C>T (p.Ser98=) rs79338570
NM_000214.3(JAG1):c.388-4G>C rs567027490
NM_000214.3(JAG1):c.436G>A (p.Val146Ile) rs6040067
NM_000214.3(JAG1):c.526G>A (p.Val176Ile) rs199674138
NM_000214.3(JAG1):c.744A>G (p.Pro248=) rs10485741
NM_000214.3(JAG1):c.909T>C (p.His303=) rs139574260
NM_000214.3(JAG1):c.924C>T (p.Asn308=) rs45575136

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