ClinVar Miner

List of variants reported as pathogenic for intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

Included ClinVar conditions (2):

Immunodeficiency 49; Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_138576.4(BCL11B):c.1662_1668del (p.Ser555fs)	rs2139757401
NM_138576.4(BCL11B):c.2443del (p.Arg815fs)
NM_138576.4(BCL11B):c.2605del (p.Leu869fs)

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