ClinVar Miner

List of variants in gene JAG1 reported as likely benign by Illumina Laboratory Services, Illumina

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Gene type:
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000214.3(JAG1):c.270G>T (p.Gly90=) rs114048678 0.02490
NM_000214.2(JAG1):c.-514G>C rs533596136 0.00192
NM_000214.3(JAG1):c.133G>T (p.Val45Leu) rs183974372 0.00054
NM_000214.3(JAG1):c.2917-7G>A rs201573066 0.00010
NM_000214.3(JAG1):c.1344C>T (p.Asp448=) rs754081766 0.00007
NM_000214.3(JAG1):c.2517C>T (p.Ile839=) rs560603550 0.00007
NM_000214.3(JAG1):c.3154G>A (p.Val1052Ile) rs375200637 0.00007
NM_000214.3(JAG1):c.3153C>T (p.Ala1051=) rs754593633 0.00006
NM_000214.3(JAG1):c.3343G>A (p.Val1115Met) rs148373907 0.00006
NM_000214.3(JAG1):c.2304C>T (p.Cys768=) rs755427292 0.00004
NM_000214.3(JAG1):c.3200-12C>T rs754439203 0.00002
NM_000214.3(JAG1):c.*21C>T rs554327524 0.00001
NM_000214.3(JAG1):c.1791C>T (p.Asn597=) rs145910804 0.00001
NM_000214.3(JAG1):c.2445C>T (p.Pro815=) rs777122869 0.00001
NM_000214.3(JAG1):c.*1511dup rs571057258
NM_000214.3(JAG1):c.*563_*565del rs139536676
NM_000214.3(JAG1):c.-299AAG[1] rs147400796
NM_000214.3(JAG1):c.-528C>A rs191409481
NM_000214.3(JAG1):c.294C>T (p.Ser98=) rs79338570

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