ClinVar Miner

List of variants reported as benign for Spondylocostal dysostosis 1, autosomal recessive by Illumina Laboratory Services, Illumina

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_203486.3(DLL3):c.653T>C (p.Leu218Pro) rs1110627 0.59676
NM_203486.3(DLL3):c.515T>G (p.Phe172Cys) rs8107127 0.29570
NM_203486.3(DLL3):c.1029C>T (p.Pro343=) rs2304214 0.27957
NM_203486.3(DLL3):c.425T>A (p.Leu142Gln) rs55741253 0.06752
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.1143C>T (p.Ala381=) rs367573123 0.00458
NM_203486.3(DLL3):c.546C>G (p.Ala182=) rs8106337

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