ClinVar Miner

List of variants reported as pathogenic for Gastrointestinal defects and immunodeficiency syndrome 1 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_020458.4(TTC7A):c.1183dup (p.Gln395fs)	rs886042806
NM_020458.4(TTC7A):c.1869C>A (p.Cys623Ter)	rs1682321195
NM_020458.4(TTC7A):c.286G>T (p.Glu96Ter)	rs886042805

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