ClinVar Miner

List of variants studied for Alagille syndrome due to a JAG1 point mutation by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000214.3(JAG1):c.3064C>T (p.Arg1022Trp)	rs1057516205	0.00001
NM_000214.3(JAG1):c.2342dup (p.Asn782fs)	rs886039887

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