ClinVar Miner

List of variants reported as likely benign for Desbuquois dysplasia 1 by Illumina Laboratory Services, Illumina

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001159773.2(CANT1):c.967G>A (p.Ala323Thr) rs9903215 0.01090
NM_001159773.2(CANT1):c.*1376C>G rs139673784 0.00478
NM_001159773.2(CANT1):c.*696T>G rs149991908 0.00478
NM_001159773.2(CANT1):c.-96C>T rs143084065 0.00410
NM_001159773.2(CANT1):c.1123A>T (p.Met375Leu) rs139486406 0.00273
NM_001159773.2(CANT1):c.1172G>A (p.Gly391Glu) rs34082669 0.00268
NM_001159773.2(CANT1):c.194C>T (p.Ala65Val) rs200811852 0.00242
NM_001159773.2(CANT1):c.198C>T (p.Pro66=) rs201935694 0.00185
NM_001159773.2(CANT1):c.*1794T>G rs192546263 0.00143
NM_001159773.2(CANT1):c.*157G>A rs117904862 0.00122
NM_001159773.2(CANT1):c.1152G>C (p.Leu384=) rs145794847 0.00017
NM_001159773.2(CANT1):c.*998G>T rs78037898

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