List of variants reported as likely pathogenic for Gastrointestinal defect and immunodeficiency syndrome

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_020458.4(TTC7A):c.2468T>C (p.Leu823Pro)	rs587776972	0.00001
NM_020458.4(TTC7A):c.1322_1323del (p.Val441fs)	rs762466884
NM_020458.4(TTC7A):c.1630del (p.Leu544fs)
NM_020458.4(TTC7A):c.1641+1G>A
NM_020458.4(TTC7A):c.281del (p.Lys94fs)	rs2103966533
NM_020458.4(TTC7A):c.8del (p.Ala3fs)

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