ClinVar Miner

List of variants studied for Alagille syndrome due to a JAG1 point mutation by Illumina Laboratory Services, Illumina

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000214.3(JAG1):c.5G>T (p.Arg2Leu)	rs1026004197	0.00006
NM_000214.3(JAG1):c.1813del (p.Cys605fs)	rs2514515620
NM_000214.3(JAG1):c.2072G>A (p.Cys691Tyr)	rs1555828246
NM_000214.3(JAG1):c.695-1G>C	rs2514524519

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