ClinVar Miner

List of variants reported as pathogenic for hypogonadotropic hypogonadism 2 with or without anosmia by Endocrinology Clinic, Seth G.S. Medical College

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)
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_023110.3(FGFR1):c.443G>A (p.Arg148His)	rs515726222	0.00001
NM_023110.3(FGFR1):c.1460G>A (p.Gly487Asp)	rs515726224
NM_023110.3(FGFR1):c.2084C>T (p.Thr695Ile)	rs515726225
NM_023110.3(FGFR1):c.790A>C (p.Asn264His)	rs515726223

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