ClinVar Miner

List of variants reported as likely pathogenic for Saethre-Chotzen syndrome by Department of Medical Genetics, Oslo University Hospital

Included ClinVar conditions (6):

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
Saethre-Chotzen syndrome
TWIST1-related craniosynostosis; Robinow-Sorauf syndrome; Saethre-Chotzen syndrome
TWIST1-related craniosynostosis; Robinow-Sorauf syndrome; Saethre-Chotzen syndrome; Sweeney-Cox syndrome
TWIST1-related craniosynostosis; Saethre-Chotzen 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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000474.4(TWIST1):c.171del (p.Gly59fs)	rs1788590614
NM_000474.4(TWIST1):c.329G>C (p.Arg110Pro)	rs1085307555
NM_000474.4(TWIST1):c.385_405dup (p.Ala129_Ile135dup)	rs748476974
NM_000474.4(TWIST1):c.475C>G (p.Leu159Val)	rs1563159945

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