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

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_020458.4(TTC7A):c.211G>A (p.Glu71Lys)	rs147914967	0.00003
NM_020458.4(TTC7A):c.518G>A (p.Gly173Asp)	rs1283566399	0.00001
NM_020458.4(TTC7A):c.2355+5G>A
NM_020458.4(TTC7A):c.2393C>T (p.Ala798Val)

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