ClinVar Miner

List of variants studied for Hartsfield-Bixler-Demyer syndrome by OMIM

Included ClinVar conditions (4):

Hartsfield-Bixler-Demyer syndrome
Hartsfield-Bixler-Demyer syndrome; Cerebellar vermis hypoplasia
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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_023110.3(FGFR1):c.1867G>T (p.Asp623Tyr)	rs398122946
NM_023110.3(FGFR1):c.2174G>A (p.Cys725Tyr)	rs398122945
NM_023110.3(FGFR1):c.494T>C (p.Leu165Ser)	rs397515481

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