ClinVar Miner

List of variants studied for Spondylocostal dysostosis 6, autosomal recessive

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001009994.3(RIPPLY2):c.12G>A (p.Ala4=) rs9353143 0.25423
NM_001009994.3(RIPPLY2):c.96-4G>A rs2298290 0.18347
NM_001009994.3(RIPPLY2):c.240-4T>G rs370933531 0.00074
NM_001009994.3(RIPPLY2):c.238A>T (p.Arg80Ter) rs201419367 0.00024
NM_001009994.3(RIPPLY2):c.40G>A (p.Ala14Thr)

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