ClinVar Miner

List of variants in gene DLL3, LOC130064419 studied for Spondylocostal dysostosis 1, autosomal recessive

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Gene type: Distinguish antisense genes from sense genes
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_203486.3(DLL3):c.1562C>T (p.Ser521Phe)	rs191149379	0.00662
NM_203486.3(DLL3):c.1623G>A (p.Pro541=)	rs200988915	0.00011
NM_203486.3(DLL3):c.1511G>A (p.Gly504Asp)	rs104894676	0.00002

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