ClinVar Miner

List of variants studied for Pfeiffer syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (9):

Acrocephalosyndactyly
Acrocephalosyndactyly type I; Beare-Stevenson cutis gyrata syndrome; Jackson-Weiss syndrome; Levy-Hollister syndrome; Pfeiffer syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Crouzon syndrome; Saethre-Chotzen syndrome; Familial scaphocephaly syndrome, McGillivray type; Bent bone dysplasia syndrome 1; Gastric cancer
Acrocephalosyndactyly type I; Beare-Stevenson cutis gyrata syndrome; Jackson-Weiss syndrome; Levy-Hollister syndrome; Pfeiffer syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Crouzon syndrome; Saethre-Chotzen syndrome; Familial scaphocephaly syndrome, McGillivray type; Neoplasm of stomach; Bent bone dysplasia syndrome 1
Acrocephalosyndactyly type I; Pfeiffer syndrome; Crouzon syndrome
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
Pfeiffer syndrome
Pfeiffer syndrome type 1
Pfeiffer syndrome type 3

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

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_023110.3(FGFR1):c.*2104del	rs201364530	0.00099
NM_000141.5(FGFR2):c.*736dup	rs886046762	0.00005
NM_000141.5(FGFR2):c.1498_1502del	rs566259479
NM_000141.5(FGFR2):c.*197del	rs748777325
NM_000141.5(FGFR2):c.641_644del	rs548465887
NM_000141.5(FGFR2):c.-298_-297dup	rs41301549
NM_000141.5(FGFR2):c.110-22TC[3]	rs773932794

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