ClinVar Miner

List of variants reported as not provided by Osteogenesis Imperfecta Variant Database (PPIB)

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Total variants: 11
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HGVS dbSNP
NM_000942.4(PPIB):c.120del (p.Val42fs) rs137853865
NM_000942.4(PPIB):c.178G>T (p.Val60Leu) rs11558595
NM_000942.4(PPIB):c.26T>G (p.Met9Arg) rs137853864
NM_000942.4(PPIB):c.313G>A (p.Gly105Arg) rs137853866
NM_000942.4(PPIB):c.324C>T (p.Thr108=) rs2307247
NM_000942.4(PPIB):c.343+1G>A rs137853867
NM_000942.4(PPIB):c.63C>A (p.Ser21=) rs4904
NM_024798.3(SNX22):c.*1607_*1610del rs137853869
NM_024798.3(SNX22):c.*2253G>C rs28720193
NM_024798.3(SNX22):c.*2294G>A rs121434559
NM_024798.3(SNX22):c.*2322_*2331del rs137853868

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