ClinVar Miner

List of variants reported as pathogenic for LADD syndrome by OMIM

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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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_000142.5(FGFR3):c.1537G>A (p.Asp513Asn) rs121913112
NM_000142.5(FGFR3):c.1882G>A (p.Asp628Asn) rs1453271838
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

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