List of variants reported as benign for 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 by Fulgent Genetics, Fulgent Genetics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000214.3(JAG1):c.267G>A (p.Gly89=)	rs1051415	0.08298
NM_000214.3(JAG1):c.2227+17C>T	rs115449289	0.00903
NM_000214.3(JAG1):c.1007-16A>G	rs201709907	0.00198
NM_000214.3(JAG1):c.388-4G>C	rs567027490	0.00002
NM_000214.3(JAG1):c.2559C>T (p.Ala853=)	rs201234393	0.00001

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