ClinVar Miner

List of variants studied for LADD syndrome

Included ClinVar conditions (5):
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Total variants: 47
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HGVS dbSNP
NM_000141.5(FGFR2):c.*1498_*1502del rs566259479
NM_000141.5(FGFR2):c.*197del rs748777325
NM_000141.5(FGFR2):c.*641_*644del rs548465887
NM_000141.5(FGFR2):c.*736dup rs886046762
NM_000141.5(FGFR2):c.-298_-297dup rs41301549
NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu) rs1057519044
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.1477G>T (p.Gly493Trp) rs1554917471
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.2021C>T (p.Ala674Val) rs1554907337
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) rs77543610
NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln) rs199757302
NM_000142.4(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1331C>T (p.Ser444Phe) rs761325047
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.1993G>T (p.Ala665Ser) rs764892330
NM_000142.5(FGFR3):c.200G>A (p.Gly67Asp) rs369232922
NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser) rs139773438
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_004465.1(FGF10):c.*5A>T rs111763965
NM_004465.2(FGF10):c.1A>G (p.Met1Val) rs1554040396
NM_004465.2(FGF10):c.232del (p.Arg78fs) rs1554040364
NM_004465.2(FGF10):c.240A>C (p.Arg80Ser) rs104893888
NM_004465.2(FGF10):c.256del (p.Thr86fs) rs1554040361
NM_004465.2(FGF10):c.317G>T (p.Cys106Phe) rs104893885
NM_004465.2(FGF10):c.356del (p.Gly119fs) rs1554035763
NM_004465.2(FGF10):c.401T>A (p.Met134Lys) rs1554035757
NM_004465.2(FGF10):c.409A>T (p.Lys137Ter) rs104893887
NM_004465.2(FGF10):c.467T>G (p.Ile156Arg) rs104893886
NM_004465.2(FGF10):c.541A>C (p.Asn181His) rs1332768200
NM_004465.2(FGF10):c.550G>A (p.Gly184Arg) rs1554035469
NM_004465.2(FGF10):c.624A>G (p.Ser208=) rs886060653
NM_022970.3(FGFR2):c.110-22TC[3] rs773932794
NM_022970.3(FGFR2):c.314A>G (p.Tyr105Cys) rs1434545235

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