ClinVar Miner

List of variants reported as pathogenic for Gastrointestinal defects and immunodeficiency syndrome 1 by Aleixo Muise Laboratory, Hospital For Sick Children

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_020458.4(TTC7A):c.1001+3_1001+6del	rs587776971
NM_020458.4(TTC7A):c.1576C>T (p.Gln526Ter)	rs786205698
NM_020458.4(TTC7A):c.315_318del (p.Asn104_Tyr105insTer)	rs886037747

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