ClinVar Miner

List of variants reported as uncertain significance for Spondylocostal dysostosis 1, autosomal recessive

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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_203486.3(DLL3):c.352-15C>T rs201902809 0.00135
NM_203486.3(DLL3):c.652+15C>T rs528327447 0.00078
NM_203486.3(DLL3):c.153C>T (p.Ser51=) rs373980582 0.00061
NM_203486.3(DLL3):c.805G>A (p.Gly269Arg) rs139297205 0.00046
NM_203486.3(DLL3):c.1759-31C>G rs200669115 0.00034
NM_203486.3(DLL3):c.677C>G (p.Pro226Arg) rs145191532 0.00034
NM_203486.3(DLL3):c.1091A>G (p.Asn364Ser) rs142597040 0.00031
NM_203486.3(DLL3):c.1066C>T (p.Arg356Trp) rs146274789 0.00026
NM_203486.3(DLL3):c.1759-53A>G rs762786941 0.00025
NM_203486.3(DLL3):c.1758+57C>T rs147582946 0.00024
NM_203486.3(DLL3):c.1759-162A>G rs886054434 0.00021
NM_203486.3(DLL3):c.1376A>T (p.Tyr459Phe) rs572290101 0.00017
NM_203486.3(DLL3):c.939G>A (p.Gly313=) rs150100958 0.00016
NM_203486.3(DLL3):c.100A>T (p.Ile34Phe) rs781688970 0.00015
NM_203486.3(DLL3):c.452G>A (p.Arg151His) rs768310008 0.00015
NM_203486.3(DLL3):c.564G>T (p.Thr188=) rs767676342 0.00015
NM_203486.3(DLL3):c.1623G>A (p.Pro541=) rs200988915 0.00011
NM_203486.3(DLL3):c.1123C>T (p.Leu375=) rs777253263 0.00009
NM_203486.3(DLL3):c.1441C>G (p.Pro481Ala) rs773460228 0.00008
NM_203486.3(DLL3):c.1056G>T (p.Lys352Asn) rs376526613 0.00007
NM_203486.3(DLL3):c.1030G>C (p.Gly344Arg) rs530857183 0.00006
NM_203486.3(DLL3):c.620G>A (p.Cys207Tyr) rs886054432 0.00005
NM_203486.3(DLL3):c.1302C>T (p.Ala434=) rs750457185 0.00004
NM_203486.3(DLL3):c.915C>T (p.Tyr305=) rs372702131 0.00004
NM_203486.3(DLL3):c.969C>T (p.Asn323=) rs139638161 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.1455C>T (p.Pro485=) rs759560622 0.00002
NM_203486.3(DLL3):c.1474C>G (p.Leu492Val) rs767423604 0.00002
NM_203486.3(DLL3):c.1758+20C>G rs778339882 0.00002
NM_203486.3(DLL3):c.902C>T (p.Pro301Leu) rs781626135 0.00002
NM_203486.3(DLL3):c.1101C>T (p.Leu367=) rs1434611786 0.00001
NM_203486.3(DLL3):c.1138C>T (p.Arg380Cys) rs765517369 0.00001
NM_203486.3(DLL3):c.1189G>C (p.Gly397Arg) rs985766992 0.00001
NM_203486.3(DLL3):c.1383A>C (p.Gly461=) rs886054433 0.00001
NM_203486.3(DLL3):c.409+6T>C rs995675341 0.00001
NM_203486.3(DLL3):c.478C>T (p.Arg160Trp) rs376907733 0.00001
NM_203486.3(DLL3):c.779C>A (p.Pro260His) rs748649010 0.00001
NM_203486.3(DLL3):c.933G>A (p.Val311=) rs760420806 0.00001
NM_203486.3(DLL3):c.1123C>G (p.Leu375Val) rs777253263
NM_203486.3(DLL3):c.1140C>G (p.Arg380=) rs934368057
NM_203486.3(DLL3):c.1362T>C (p.Ala454=) rs768998068
NM_203486.3(DLL3):c.1378A>G (p.Met460Val) rs766274162
NM_203486.3(DLL3):c.1398C>A (p.Phe466Leu) rs777442783
NM_203486.3(DLL3):c.1674-9C>T rs2079653502
NM_203486.3(DLL3):c.1759-97G>T rs569619393
NM_203486.3(DLL3):c.221A>C (p.Glu74Ala) rs1600751637
NM_203486.3(DLL3):c.343G>A (p.Ala115Thr) rs71647811
NM_203486.3(DLL3):c.367A>G (p.Ile123Val) rs1568448479
NM_203486.3(DLL3):c.583A>G (p.Ser195Gly) rs2079619248
NM_203486.3(DLL3):c.615C>T (p.Arg205=) rs780088167
NM_203486.3(DLL3):c.654G>A (p.Leu218=) rs140489087
NM_203486.3(DLL3):c.870+3C>T rs377288340
NM_203486.3(DLL3):c.982G>T (p.Val328Phe) rs749513254

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