ClinVar Miner

List of variants studied for Alagille syndrome by Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

Included ClinVar conditions (9):

Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation; Charcot-Marie-Tooth disease, axonal, Type 2HH
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
Alagille syndrome due to a NOTCH2 point mutation
Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome
Arteriohepatic dysplasia
Arteriohepatic dysplasia; Heart, malformation of
Hepatic Ductular Hypoplasia

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

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000214.3(JAG1):c.1721-178_1721-41delinsTA
NM_000214.3(JAG1):c.2323del (p.Glu775fs)	rs2067296758
NM_000214.3(JAG1):c.3007_3013dup (p.Ser1005Ter)	rs1568791694

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