List of variants reported as pathogenic for autosomal recessive spondylocostal dysostosis by Baylor Genetics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001009994.3(RIPPLY2):c.238A>T (p.Arg80Ter)	rs201419367	0.00024
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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