List of variants reported as pathogenic for congenital limb malformation by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000141.5(FGFR2):c.1021A>C (p.Thr341Pro)	rs121918495
NM_000141.5(FGFR2):c.1024T>A (p.Cys342Ser)	rs121918488
NM_000141.5(FGFR2):c.1024T>C (p.Cys342Arg)	rs121918488
NM_000141.5(FGFR2):c.1024T>G (p.Cys342Gly)	rs121918488
NM_000141.5(FGFR2):c.1025G>C (p.Cys342Ser)	rs121918487
NM_000141.5(FGFR2):c.1025G>T (p.Cys342Phe)	rs121918487
NM_000141.5(FGFR2):c.1052C>G (p.Ser351Cys)	rs121918502
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.799T>C (p.Ser267Pro)	rs121918505
NM_000141.5(FGFR2):c.833G>T (p.Cys278Phe)	rs776587763
NM_000141.5(FGFR2):c.866A>C (p.Gln289Pro)	rs121918497
NM_000141.5(FGFR2):c.870G>C (p.Trp290Cys)	rs121918499
NM_000141.5(FGFR2):c.870G>T (p.Trp290Cys)	rs121918499
NM_000141.5(FGFR2):c.940-2A>G	rs1057519041
NM_000141.5(FGFR2):c.962A>C (p.Asp321Ala)	rs121918510

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