ClinVar Miner

List of variants in gene combination RIPPLY2, RIPPLY2-CYB5R4 reported as pathogenic for Spondylocostal dysostosis 6, autosomal recessive

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001009994.3(RIPPLY2):c.240-4T>G	rs370933531	0.00074
NM_001009994.3(RIPPLY2):c.238A>T (p.Arg80Ter)	rs201419367	0.00024

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