ClinVar Miner

List of variants reported as pathogenic for Cleidocranial dysostosis by Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001024630.4(RUNX2):c.1081C>T (p.Gln361Ter) rs2150452063
NM_001024630.4(RUNX2):c.673C>T (p.Arg225Trp) rs104893992
NM_001024630.4(RUNX2):c.674G>A (p.Arg225Gln) rs104893991
NM_001024630.4(RUNX2):c.739del (p.Ser247fs) rs2150407600
NM_001024630.4(RUNX2):c.901C>T (p.Gln301Ter) rs758120505

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