List of variants reported as likely pathogenic for Gastrointestinal defects and immunodeficiency syndrome 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_020458.4(TTC7A):c.1433T>C (p.Leu478Pro)	rs201100272	0.00002
NM_020458.4(TTC7A):c.1621C>T (p.Gln541Ter)	rs765653721	0.00001
NM_020458.4(TTC7A):c.2468T>C (p.Leu823Pro)	rs587776972	0.00001
NM_020458.4(TTC7A):c.1066-2A>T
NM_020458.4(TTC7A):c.1072C>T (p.Arg358Ter)	rs1297794582
NM_020458.4(TTC7A):c.1213C>T (p.Arg405Ter)	rs779549457
NM_020458.4(TTC7A):c.192del (p.Phe64fs)	rs1476031758
NM_020458.4(TTC7A):c.2056_2059delinsTAGT (p.Glu686_Glu687delinsTer)
NM_020458.4(TTC7A):c.2146C>T (p.Gln716Ter)	rs762685822
NM_020458.4(TTC7A):c.2395C>T (p.Gln799Ter)
NM_020458.4(TTC7A):c.412C>T (p.Arg138Ter)	rs773754673

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