ClinVar Miner

List of variants studied for intellectual developmental disorder with dysmorphic facies and ptosis by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001003694.2(BRPF1):c.1313del (p.Val438fs) rs2076997522
NM_001003694.2(BRPF1):c.1775dup (p.Arg593fs) rs2125504267
NM_001003694.2(BRPF1):c.2311+1G>A rs2077062359
NM_001003694.2(BRPF1):c.67T>C (p.Cys23Arg) rs2076901423

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