ClinVar Miner

List of variants reported as benign for Treacher-Collins syndrome by Invitae

Included ClinVar conditions (5):

Crouzon syndrome; Treacher Collins syndrome
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive; Leukodystrophy, hypomyelinating, 11
Treacher Collins syndrome 1
Treacher Collins syndrome 2

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Total variants: 1

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HGVS	dbSNP
NM_000356.4(TCOF1):c.4061G>C (p.Gly1354Ala)	rs45491898

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