ClinVar Miner

List of variants reported as pathogenic for mandibulofacial dysostosis by Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand

Included ClinVar conditions (18):

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_001371623.1(TCOF1):c.3183G>C (p.Gln1061His)
NM_001371623.1(TCOF1):c.4372_4376del (p.Lys1458fs)	rs587776582
NM_015972.4(POLR1D):c.261del (p.Gly88fs)	rs2138519077

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