ClinVar Miner

List of variants studied for Alagille syndrome due to a JAG1 point mutation by Baylor Genetics

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000214.3(JAG1):c.133G>T (p.Val45Leu) rs183974372 0.00054
NM_000214.3(JAG1):c.1706C>T (p.Thr569Met) rs368438076 0.00012
GRCh37/hg19 20p12.2(chr20:10124855-11479105)
NM_000214.3(JAG1):c.1446_1448delinsC (p.His483fs) rs1568796241
NM_000214.3(JAG1):c.1724T>C (p.Ile575Thr) rs2067314756
NM_000214.3(JAG1):c.2170G>A (p.Gly724Arg) rs2067299833
NM_000214.3(JAG1):c.2372+1G>T rs2067293664
NM_000214.3(JAG1):c.2393T>C (p.Val798Ala)
NM_000214.3(JAG1):c.359T>C (p.Ile120Thr)
NM_000214.3(JAG1):c.864G>A (p.Trp288Ter)
NM_000214.3(JAG1):c.925G>T (p.Gly309Trp)

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