ClinVar Miner

List of variants reported as benign for Desbuquois dysplasia 1

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP
NM_001159773.2(CANT1):c.*1056T>C rs77565945
NM_001159773.2(CANT1):c.*1093C>T rs8078860
NM_001159773.2(CANT1):c.*1149C>T
NM_001159773.2(CANT1):c.*1440G>A rs4861
NM_001159773.2(CANT1):c.*1476G>A rs73999357
NM_001159773.2(CANT1):c.*1732T>C
NM_001159773.2(CANT1):c.*570G>A rs8079368
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.*847C>T rs11891
NM_001159773.2(CANT1):c.*964A>G rs75126416
NM_001159773.2(CANT1):c.-153G>T rs531435158
NM_001159773.2(CANT1):c.-23+25G>A rs3744171
NM_001159773.2(CANT1):c.-239A>G rs12949479
NM_001159773.2(CANT1):c.1056C>T (p.Asn352=) rs3803781
NM_001159773.2(CANT1):c.159T>C (p.Ala53=) rs8077024
NM_022166.4(XYLT1):c.1272G>A (p.Ala424=) rs144531370
NM_022166.4(XYLT1):c.1626C>T (p.Cys542=)
NM_022166.4(XYLT1):c.1743G>A (p.Pro581=)
NM_022166.4(XYLT1):c.1918G>A (p.Gly640Ser)
NM_022166.4(XYLT1):c.2226C>T (p.Val742=)
NM_022166.4(XYLT1):c.2370C>A (p.Val790=)
NM_022166.4(XYLT1):c.2656G>T (p.Ala886Ser)
NM_022166.4(XYLT1):c.343G>T (p.Ala115Ser) rs61758388
NM_022166.4(XYLT1):c.606A>G (p.Lys202=)

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