ClinVar Miner

List of variants reported as likely benign for Desbuquois dysplasia

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_001159773.2(CANT1):c.*1056T>C rs77565945
NM_001159773.2(CANT1):c.*664T>C rs79189369
NM_001159773.2(CANT1):c.*671T>C rs114125762
NM_001159773.2(CANT1):c.*829G>A rs115856545
NM_001159773.2(CANT1):c.*964A>G rs75126416
NM_001159773.2(CANT1):c.1056C>T (p.Asn352=) rs3803781
NM_001159773.2(CANT1):c.967G>A (p.Ala323Thr) rs9903215
NM_022166.4(XYLT1):c.2007G>A (p.Thr669=) rs150492983

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