ClinVar Miner

List of variants reported as likely benign for Spondylocostal dysostosis 1, autosomal recessive by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_203486.3(DLL3):c.1384G>A (p.Ala462Thr) rs182454962 0.00494
NM_203486.3(DLL3):c.409+61G>A rs377405105 0.00384
NM_203486.3(DLL3):c.1307G>A (p.Arg436His) rs199831437 0.00317
NM_203486.3(DLL3):c.618C>T (p.Pro206=) rs192624990 0.00153
NM_203486.3(DLL3):c.352-15C>T rs201902809 0.00135
NM_203486.3(DLL3):c.63C>T (p.Leu21=) rs146255899 0.00109
NM_203486.3(DLL3):c.153C>T (p.Ser51=) rs373980582 0.00061
NM_203486.3(DLL3):c.1356C>T (p.Val452=) rs554268445 0.00050
NM_203486.3(DLL3):c.870+12C>G rs180859782 0.00012
NM_203486.3(DLL3):c.409+19G>T rs201227250 0.00004
NM_203486.3(DLL3):c.984C>T (p.Val328=) rs138378695 0.00004
NM_203486.3(DLL3):c.138G>A (p.Pro46=) rs987371248 0.00001
NM_203486.3(DLL3):c.616C>G (p.Pro206Ala) rs376905666

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