ClinVar Miner

List of variants studied for Spondylocostal dysostosis 1, autosomal recessive by Baylor Genetics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_203486.3(DLL3):c.1136G>A (p.Cys379Tyr) rs786205519 0.00003
NM_203486.3(DLL3):c.712C>T (p.Arg238Ter) rs104894675 0.00001
NM_203486.3(DLL3):c.599_603dup (p.Pro202fs) rs786200899
NM_203486.3(DLL3):c.618del (p.Cys207fs) rs786200902

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