ClinVar Miner

List of variants reported for Cornelia de Lange syndrome 1 by Genetics and Molecular Pathology, SA Pathology

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_133433.4(NIPBL):c.1530C>A (p.Tyr510Ter)
NM_133433.4(NIPBL):c.3213G>A (p.Met1071Ile) rs2149662601
NM_133433.4(NIPBL):c.5467A>G (p.Asn1823Asp) rs750864821
NM_133433.4(NIPBL):c.6893G>A (p.Arg2298His) rs587784024

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