ClinVar Miner

List of variants studied for gastrointestinal defect and immunodeficiency syndrome by Neuberg Centre For Genomic Medicine, NCGM

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_020458.4(TTC7A):c.1364C>T (p.Ala455Val)	rs201913059	0.00003
NM_020458.4(TTC7A):c.517+1G>A
NM_058004.4(PI4KA):c.3757G>A (p.Ala1253Thr)

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