List of variants studied for Alagille syndrome by Illumina Laboratory Services, Illumina

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Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000214.3(JAG1):c.*253C>T	rs780887274	0.00014
NM_000214.3(JAG1):c.5G>T (p.Arg2Leu)	rs1026004197	0.00006
NM_000214.3(JAG1):c.2590A>G (p.Ile864Val)	rs142742183	0.00004
NM_000214.3(JAG1):c.1093_1097del	rs886056509
NM_000214.3(JAG1):c.1133_1136del	rs886056508
NM_000214.3(JAG1):c.1212_1214del	rs886056507
NM_000214.3(JAG1):c.*1531TG[1]	rs765273169
NM_000214.3(JAG1):c.*644AAT[1]	rs572952606
NM_000214.3(JAG1):c.*959GTTT[2]	rs748163677
NM_000214.3(JAG1):c.-299AAG[1]	rs147400796
NM_000214.3(JAG1):c.-375dup	rs201660680
NM_000214.3(JAG1):c.-386dup	rs886056519
NM_000214.3(JAG1):c.-528C>A	rs191409481
NM_000214.3(JAG1):c.2072G>A (p.Cys691Tyr)	rs1555828246
NM_000214.3(JAG1):c.695-1G>C
NM_024408.4(NOTCH2):c.836T>G (p.Val279Gly)	rs1557834060

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