ClinVar Miner

List of variants studied for Alagille syndrome due to a JAG1 point mutation by Mendelics

Included ClinVar conditions (5):

Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation; Tetralogy of Fallot; Deafness, congenital heart defects, and posterior embryotoxon
Alagille syndrome due to a JAG1 point mutation; Tetralogy of Fallot; Deafness, congenital heart defects, and posterior embryotoxon; Charcot-Marie-Tooth disease, axonal, Type 2HH
Arteriohepatic dysplasia
Arteriohepatic dysplasia; Heart, malformation of

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln)	rs145895196	0.00180
NM_000214.3(JAG1):c.2101A>C (p.Thr701Pro)	rs79176844
NM_000214.3(JAG1):c.2458+1G>A	rs2122600431
NM_000214.3(JAG1):c.886+1G>A	rs1600186024
NM_000214.3(JAG1):c.903dup (p.Thr302fs)	rs2122614562

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