ClinVar Miner

List of variants reported as pathogenic for hypogonadotropic hypogonadism 2 with or without anosmia by OMIM

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
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.142G>A (p.Gly48Ser)	rs121909640
NM_023110.3(FGFR1):c.2038C>T (p.Gln680Ter)	rs121909636
NM_023110.3(FGFR1):c.2292G>T (p.Gln764His)	rs121909643

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