List of variants in gene TTC7A reported as likely pathogenic for Gastrointestinal defects and immunodeficiency syndrome 1

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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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.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.1288-1G>T	rs568082272
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.2355+5G>A
NM_020458.4(TTC7A):c.2393C>T (p.Ala798Val)
NM_020458.4(TTC7A):c.2395C>T (p.Gln799Ter)
NM_020458.4(TTC7A):c.412C>T (p.Arg138Ter)	rs773754673
NM_020458.4(TTC7A):c.517+1G>A

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