ClinVar Miner

List of variants studied for Spondylocostal dysostosis by Illumina Laboratory Services, Illumina

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NC_000015.10:g.89778765C>T rs11073889 0.62378
NM_001039958.2(MESP2):c.-11G>A rs139599055 0.00847
NM_001039958.2(MESP2):c.*132_*134dup rs3840032
NM_001039958.2(MESP2):c.552GGGGCA[1] (p.180QG[11]) rs56192595
NM_203486.3(DLL3):c.-12dup rs747003629

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