List of variants in gene FGFR2 reported as likely pathogenic for Pfeiffer syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu)	rs1057519044
NM_000141.5(FGFR2):c.1084+3A>G	rs879253721
NM_000141.5(FGFR2):c.1124A>T (p.Tyr375Phe)
NM_000141.5(FGFR2):c.1576A>G (p.Lys526Glu)	rs121918507
NM_000141.5(FGFR2):c.1694A>C (p.Glu565Ala)	rs121918506
NM_000141.5(FGFR2):c.1694A>G (p.Glu565Gly)	rs121918506
NM_000141.5(FGFR2):c.1922A>G (p.Lys641Arg)	rs1057519047
NM_000141.5(FGFR2):c.2096T>C (p.Leu699Ser)
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp)	rs79184941
NM_000141.5(FGFR2):c.833_834delinsTA (p.Cys278Leu)	rs1057519037

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