ClinVar Miner

List of variants in gene combination CPLANE1, NIPBL reported as pathogenic for Cornelia de Lange syndrome

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NC_000005.9:g.(?_36877266)_(37065014_?)del
NM_133433.4(NIPBL):c.8165_8183del (p.Pro2722fs) rs587784052
NM_133433.4(NIPBL):c.8275_8276dup (p.Val2760fs) rs797045787
NM_133433.4(NIPBL):c.8277_8283del (p.Val2760fs) rs587784055
NM_133433.4(NIPBL):c.8300_8301del (p.Lys2767fs) rs587784056
NM_133433.4(NIPBL):c.8342_8348delinsATT (p.Ala2781fs) rs797045789
NM_133433.4(NIPBL):c.8377C>T (p.Arg2793Ter) rs398124474

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