ClinVar Miner

List of variants studied for immunodeficiency 49 by Baylor Genetics

Included ClinVar conditions (2):

Immunodeficiency 49
Immunodeficiency 49; 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
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_138576.4(BCL11B):c.1003A>G (p.Met335Val)	rs1886500576
NM_138576.4(BCL11B):c.296C>T (p.Pro99Leu)	rs1889207328
NM_138576.4(BCL11B):c.906C>A (p.His302Gln)	rs1886508540

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