ClinVar Miner

List of variants studied 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:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001371623.1(TCOF1):c.158G>A (p.Trp53Ter)
NM_001371623.1(TCOF1):c.3183G>C (p.Gln1061His)
NM_001371623.1(TCOF1):c.3711del (p.Ala1238fs) rs2151060309
NM_001371623.1(TCOF1):c.3754del (p.Gln1252fs)
NM_001371623.1(TCOF1):c.4372_4376del (p.Lys1458fs) rs587776582
NM_015972.4(POLR1D):c.261del (p.Gly88fs) rs2138519077

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