ClinVar Miner

List of variants in gene FGFR1 reported as benign for Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis

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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_023110.3(FGFR1):c.600C>T (p.Asp200=)	rs17175898	0.00782
NM_023110.3(FGFR1):c.2262G>A (p.Leu754=)	rs56341011	0.00711

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