ClinVar Miner

List of variants studied for mandibulofacial dysostosis by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (17):

Acrodysostosis
Acrodysostosis 1 with or without hormone resistance
Acrodysostosis 2 with or without hormone resistance
Branchiootic syndrome 1; Branchiootorenal syndrome 1; Otofaciocervical syndrome 1
Carney complex, type 1; Pigmented nodular adrenocortical disease, primary, 1; Familial atrial myxoma; Acrodysostosis 1 with or without hormone resistance
Crouzon syndrome; Treacher Collins syndrome
Mandibulofacial dysostosis with alopecia
Mandibulofacial dysostosis with alopecia; Migraine with or without aura, susceptibility to, 1
Otofaciocervical syndrome 1
Otofaciocervical syndrome 2
Pigmented nodular adrenocortical disease, primary, 1; Acrodysostosis 1 with or without hormone resistance; Carney complex
Treacher Collins syndrome
Treacher Collins syndrome 1
Treacher Collins syndrome 2
Treacher Collins syndrome 3
Treacher Collins syndrome 3; Hypomyelinating leukodystrophy 11
Treacher Collins syndrome 4

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_001257096.2(PAX1):c.395G>A (p.Arg132Gln)
NM_001371623.1(TCOF1):c.1975G>C (p.Val659Leu)
NM_001371623.1(TCOF1):c.2629_2648del (p.Ser877fs)

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