ClinVar Miner

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

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Total variants: 32
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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.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.160C>A (p.Leu54Ile) rs200673897 0.00285
NM_203486.3(DLL3):c.390G>A (p.Glu130=) rs113780398 0.00200
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.677C>G (p.Pro226Arg) rs145191532 0.00034
NM_203486.3(DLL3):c.1376A>T (p.Tyr459Phe) rs572290101 0.00017
NM_203486.3(DLL3):c.870+12C>G rs180859782 0.00012
NM_203486.3(DLL3):c.1056G>T (p.Lys352Asn) rs376526613 0.00007
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.1187C>T (p.Ala396Val) rs747708804 0.00002
NM_203486.3(DLL3):c.138G>A (p.Pro46=) rs987371248 0.00001
NM_203486.3(DLL3):c.409+6T>C rs995675341 0.00001
NM_203486.3(DLL3):c.1398C>A (p.Phe466Leu) rs777442783
NM_203486.3(DLL3):c.221A>C (p.Glu74Ala) rs1600751637
NM_203486.3(DLL3):c.546C>G (p.Ala182=) rs8106337
NM_203486.3(DLL3):c.616C>G (p.Pro206Ala) rs376905666
NM_203486.3(DLL3):c.982G>T (p.Val328Phe) rs749513254

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