ClinVar Miner

List of variants reported as pathogenic for Pfeiffer syndrome by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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NM_022970.3(FGFR2):c.1087+1304G>A rs121918487
NM_022970.3(FGFR2):c.1087+1311G>A rs121918491
NM_022970.3(FGFR2):c.1127A>G (p.Tyr376Cys) rs121913478
NM_022970.3(FGFR2):c.1153G>A (p.Gly385Arg) rs1554927408
NM_022970.3(FGFR2):c.314A>G (p.Tyr105Cys) rs1434545235
NM_022970.3(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_022970.3(FGFR2):c.758C>G (p.Pro253Arg) rs77543610

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