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rs786200901

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ClinVar
Risk rs786200901(CGCGCGGACCCGTGCGC;CGCGCGGACCCGTGCGC)
Alt rs786200901(CGCGCGGACCCGTGCGC;CGCGCGGACCCGTGCGC)
Reference rs786200901(;)
Significance Pathogenic
Disease Spondylocostal dysostosis 1
Variation info
Gene DLL3
CLNDBN Spondylocostal dysostosis 1, autosomal recessive
Reversed 0
HGVS NC_000019.9:g.39997876_39997892dup17
CLNSRC OMIM Allelic Variant
CLNACC RCV000007233.3,