ClinVar Miner

List of variants reported as likely pathogenic for Cornelia de Lange syndrome 3 by Genetic Services Laboratory, University of Chicago

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_005445.4(SMC3):c.1964G>A (p.Gly655Asp) rs587784425
NM_005445.4(SMC3):c.2005T>G (p.Tyr669Asp) rs776056911
NM_005445.4(SMC3):c.2338G>C (p.Glu780Gln) rs587784427
NM_005445.4(SMC3):c.2636G>C (p.Arg879Pro) rs797045996
NM_005445.4(SMC3):c.3373C>G (p.Leu1125Val) rs901512521
NM_005445.4(SMC3):c.707G>C (p.Arg236Pro) rs587784429
NM_005445.4(SMC3):c.856GAA[3] (p.Glu287dup) rs797045997

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