ClinVar Miner

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

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_022970.3(FGFR2):c.1087+1217A>G rs1057519041
NM_022970.3(FGFR2):c.1087+1241A>C rs121918510
NM_022970.3(FGFR2):c.1087+1300A>C rs121918495
NM_022970.3(FGFR2):c.1087+1303T>A rs121918488
NM_022970.3(FGFR2):c.1087+1303T>C rs121918488
NM_022970.3(FGFR2):c.1087+1303T>G rs121918488
NM_022970.3(FGFR2):c.1087+1331C>G rs121918502
NM_022970.3(FGFR2):c.799T>C (p.Ser267Pro) rs121918505
NM_022970.3(FGFR2):c.833G>T (p.Cys278Phe) rs776587763
NM_022970.3(FGFR2):c.866A>C (p.Gln289Pro) rs121918497
NM_022970.3(FGFR2):c.870G>C (p.Trp290Cys) rs121918499
NM_022970.3(FGFR2):c.870G>T (p.Trp290Cys) rs121918499

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