ClinVar Miner

List of variants reported as uncertain significance for Cornelia de Lange syndrome 2 by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_006306.3(SMC1A):c.1254+11G>C rs144354524
NM_006306.3(SMC1A):c.1545+4A>C rs377270943
NM_006306.3(SMC1A):c.2350A>G (p.Ile784Val) rs587784411
NM_006306.3(SMC1A):c.285C>G (p.Ala95=) rs587784414
NM_006306.3(SMC1A):c.3252C>T (p.Ile1084=) rs587784417
NM_006306.3(SMC1A):c.855-15C>T rs147791932

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