ClinVar Miner

List of variants in gene combination FGFR1, LOC130000233 reported as uncertain significance for hypogonadotropic hypogonadism 2 with or without anosmia

Included ClinVar conditions (4):

Hypogonadotropic hypogonadism 2 with or without anosmia
Hypogonadotropic hypogonadism 2 with or without anosmia; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia
Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis
Hypogonadotropic hypogonadism 2 with or without anosmia; 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: 3

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HGVS	dbSNP	gnomAD frequency
NM_023110.3(FGFR1):c.-263G>C	rs974672416	0.00023
NM_023110.3(FGFR1):c.-270G>A	rs578030717	0.00021
NM_023110.3(FGFR1):c.-278C>A	rs1835944475

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