ClinVar Miner

List of variants studied for Alagille syndrome due to a JAG1 point mutation by Genomics And Bioinformatics Analysis Resource, Columbia University

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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000214.3(JAG1):c.694+1G>T	rs876660979	0.00001
NM_000214.3(JAG1):c.1395+3A>G	rs886044220
NM_000214.3(JAG1):c.2230C>T (p.Arg744Ter)	rs863223655
NM_000214.3(JAG1):c.2625del (p.Lys875fs)
NM_000214.3(JAG1):c.82-2A>G	rs1568807161

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