ClinVar Miner

List of variants studied for Alagille syndrome by Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000214.3(JAG1):c.1211G>A (p.Trp404Ter) rs2514519130
NM_000214.3(JAG1):c.2385del (p.Thr796fs) rs1568793309
NM_000214.3(JAG1):c.387+1G>C rs2514537639
NM_024408.4(NOTCH2):c.6139del (p.Arg2047fs) rs2526108695

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