ClinVar Miner

List of variants reported as pathogenic for hypogonadotropic hypogonadism 2 with or without anosmia by Laboratory of Prof. Karen Avraham, Tel Aviv University

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_023110.3(FGFR1):c.83C>T (p.Pro28Leu)	rs145434725	0.00002
NM_023110.3(FGFR1):c.386A>C (p.Asp129Ala)	rs765615419	0.00001

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