ClinVar Miner

List of variants reported as pathogenic for Cornelia de Lange syndrome 5 by Invitae

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NC_000023.10:g.(?_71681834)_(71681968_?)del
NM_018486.3(HDAC8):c.164+2dup rs2147614590
NM_018486.3(HDAC8):c.295+2T>G rs2051897517
NM_018486.3(HDAC8):c.356C>T (p.Thr119Met) rs587779380
NM_018486.3(HDAC8):c.522C>G (p.Tyr174Ter) rs146015223
NM_018486.3(HDAC8):c.748del (p.Glu250fs)
NM_018486.3(HDAC8):c.787C>T (p.Gln263Ter) rs886041838
NM_018486.3(HDAC8):c.956C>T (p.Thr319Ile) rs2148039184
NM_018486.3(HDAC8):c.958G>A (p.Gly320Arg) rs398122909

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