List of variants in gene FGFR1 reported as uncertain significance for Pfeiffer syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_023110.3(FGFR1):c.241A>G (p.Ile81Val)	rs201574031	0.00013
NM_023110.3(FGFR1):c.169C>A (p.Leu57Met)	rs1301127877	0.00003
NM_023110.3(FGFR1):c.1774G>A (p.Glu592Lys)	rs755002934	0.00001
NM_023110.3(FGFR1):c.369CTC[1] (p.Ser125del)	rs1328266877

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