ClinVar Miner

List of variants studied for Alagille syndrome by Baylor Genetics

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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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
NM_024408.4(NOTCH2):c.5732G>A (p.Arg1911His) rs1216790064 0.00001
NM_024408.4(NOTCH2):c.686C>A (p.Pro229His) rs781850215 0.00001
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.359T>C (p.Ile120Thr)
NM_000214.3(JAG1):c.864G>A (p.Trp288Ter)
NM_000214.3(JAG1):c.925G>T (p.Gly309Trp)
NM_024408.4(NOTCH2):c.1492T>C (p.Cys498Arg)
NM_024408.4(NOTCH2):c.2587C>T (p.Pro863Ser) rs1650362306
NM_024408.4(NOTCH2):c.5031G>T (p.Gln1677His) rs1345166838
NM_024408.4(NOTCH2):c.6325A>G (p.Lys2109Glu) rs1649072477

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