ClinVar Miner

List of variants studied for Pfeiffer syndrome by Division of Genomic Diagnostics,The Children's Hospital of Philadelphia

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_000141.4(FGFR2):c.1021A>C (p.Thr341Pro) rs121918495
NM_000141.4(FGFR2):c.1024T>A (p.Cys342Ser) rs121918488
NM_000141.4(FGFR2):c.1024T>C (p.Cys342Arg) rs121918488
NM_000141.4(FGFR2):c.1024T>G (p.Cys342Gly) rs121918488
NM_000141.4(FGFR2):c.1052C>G (p.Ser351Cys) rs121918502
NM_000141.4(FGFR2):c.1694A>C (p.Glu565Ala) rs121918506
NM_000141.4(FGFR2):c.1694A>G (p.Glu565Gly) rs121918506
NM_000141.4(FGFR2):c.1922A>G (p.Lys641Arg) rs1057519047
NM_000141.4(FGFR2):c.799T>C (p.Ser267Pro) rs121918505
NM_000141.4(FGFR2):c.833G>T (p.Cys278Phe) rs776587763
NM_000141.4(FGFR2):c.833_834delinsTA (p.Cys278Leu) rs1057519037
NM_000141.4(FGFR2):c.866A>C (p.Gln289Pro) rs121918497
NM_000141.4(FGFR2):c.870G>C (p.Trp290Cys) rs121918499
NM_000141.4(FGFR2):c.870G>T (p.Trp290Cys) rs121918499
NM_000141.4(FGFR2):c.940-2A>G rs1057519041
NM_000141.4(FGFR2):c.962A>C (p.Asp321Ala) rs121918510

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