ClinVar Miner

List of variants studied for gastrointestinal defect and immunodeficiency syndrome by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

Included ClinVar conditions (8):

Gastrointestinal defect and immunodeficiency syndrome
Gastrointestinal defects and immunodeficiency syndrome 1
Gastrointestinal defects and immunodeficiency syndrome 2
Multiple gastrointestinal atresias
PI4KA-related disorder
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis; Spastic paraplegia 84, autosomal recessive; Gastrointestinal defects and immunodeficiency syndrome 2
Spastic paraplegia 84, autosomal recessive

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_058004.4(PI4KA):c.5512G>A (p.Asp1838Asn)	rs760261849	0.00001
NM_058004.4(PI4KA):c.5645T>C (p.Phe1882Ser)	rs1925470890

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