ClinVar Miner

List of variants studied for LADD syndrome by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP
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.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.1620C>G (p.Asn540Lys) rs28933068
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.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_022970.3(FGFR2):c.314A>G (p.Tyr105Cys) rs1434545235

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