ClinVar Miner

List of variants in gene KMT2A studied for Cornelia de Lange syndrome

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP
NM_005933.3(KMT2A):c.2233C>T (p.Arg745Ter) rs727503777

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