ClinVar Miner

List of variants reported as pathogenic for LADD syndrome

Included ClinVar conditions (5):
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ClinVar version:
Total variants: 24
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HGVS dbSNP
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) rs121918487
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) rs121918491
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) rs121913478
NM_000141.5(FGFR2):c.1150G>A (p.Gly384Arg) rs1554927408
NM_000141.5(FGFR2):c.1544C>T (p.Ala515Val)
NM_000141.5(FGFR2):c.1882G>A (p.Ala628Thr) rs121918509
NM_000141.5(FGFR2):c.1942G>A (p.Ala648Thr) rs121918508
NM_000141.5(FGFR2):c.1947_1949del (p.Arg649_Asp650delinsSer) rs879253720
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) rs77543610
NM_000142.4(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1537G>A (p.Asp513Asn) rs121913112
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) rs28933068
NM_000142.5(FGFR3):c.1882G>A (p.Asp628Asn) rs1453271838
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) rs121913105
NM_000142.5(FGFR3):c.251C>T (p.Ser84Leu) rs121913116
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_001163213.1(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_004465.2(FGF10):c.240A>C (p.Arg80Ser) rs104893888
NM_004465.2(FGF10):c.317G>T (p.Cys106Phe) rs104893885
NM_004465.2(FGF10):c.409A>T (p.Lys137Ter) rs104893887
NM_004465.2(FGF10):c.467T>G (p.Ile156Arg) rs104893886
NM_022970.3(FGFR2):c.314A>G (p.Tyr105Cys) rs1434545235

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