ClinVar Miner

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

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_203486.3(DLL3):c.515T>G (p.Phe172Cys) rs8107127 0.29570
NM_203486.3(DLL3):c.410-40C>T rs2278440 0.27956
NM_203486.3(DLL3):c.425T>A (p.Leu142Gln) rs55741253 0.06752
NM_203486.3(DLL3):c.1152G>A (p.Ala384=) rs115456333 0.01391
NM_203486.3(DLL3):c.1674-10C>T rs116099821 0.00950
NM_203486.3(DLL3):c.674G>A (p.Ser225Asn) rs35380611 0.00724
NM_203486.3(DLL3):c.1562C>T (p.Ser521Phe) rs191149379 0.00662
NM_203486.3(DLL3):c.543T>C (p.Pro181=) rs115194365 0.00553
NM_203486.3(DLL3):c.160C>A (p.Leu54Ile) rs200673897 0.00285
NM_203486.3(DLL3):c.390G>A (p.Glu130=) rs113780398 0.00200
NM_203486.3(DLL3):c.546C>G (p.Ala182=) rs8106337

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