ClinVar Miner

List of variants reported as likely benign for autosomal recessive spondylocostal dysostosis by Illumina Laboratory Services, Illumina

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001039958.2(MESP2):c.*326C>T rs76163582 0.01683
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_001039958.2(MESP2):c.908T>C (p.Leu303Pro) rs185706635 0.00162
NM_203486.3(DLL3):c.618C>T (p.Pro206=) rs192624990 0.00153
NM_203486.3(DLL3):c.63C>T (p.Leu21=) rs146255899 0.00109
NM_203486.3(DLL3):c.1388G>T (p.Arg463Leu) rs758148689 0.00053
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.*38A>G rs200982994 0.00018
NM_001039958.2(MESP2):c.498C>G (p.Pro166=) rs200336355
NM_001039958.2(MESP2):c.517G>A (p.Ala173Thr) rs374604155
NM_203486.3(DLL3):c.616C>G (p.Pro206Ala) rs376905666

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