ClinVar Miner

List of variants studied for Alagille syndrome due to a JAG1 point mutation; Tetralogy of Fallot; Deafness, congenital heart defects, and posterior embryotoxon

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000214.3(JAG1):c.3467T>C (p.Val1156Ala) rs143966918 0.00014
NM_000214.3(JAG1):c.2666G>A (p.Arg889Gln) rs149419694 0.00011
NM_000214.3(JAG1):c.3391G>A (p.Ala1131Thr) rs769242977 0.00003
NM_000214.3(JAG1):c.1794_1797del (p.Cys599fs)

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