List of variants in gene TTC7A reported as uncertain significance 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: 15

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HGVS	dbSNP	gnomAD frequency
NM_020458.4(TTC7A):c.2014T>C (p.Ser672Pro)	rs149602485	0.00217
NM_020458.4(TTC7A):c.1817A>G (p.Lys606Arg)	rs139010200	0.00216
NM_020458.4(TTC7A):c.189C>G (p.Asp63Glu)	rs112301354	0.00123
NM_020458.4(TTC7A):c.2484G>C (p.Gln828His)	rs151032299	0.00088
NM_020458.4(TTC7A):c.1633G>A (p.Val545Ile)	rs6755258	0.00076
NM_020458.4(TTC7A):c.974G>A (p.Arg325Gln)	rs144971707	0.00055
NM_020458.4(TTC7A):c.1957A>G (p.Thr653Ala)	rs113303079	0.00025
NM_020458.4(TTC7A):c.794G>A (p.Arg265Gln)	rs78745374	0.00015
NM_020458.4(TTC7A):c.1616C>T (p.Ser539Leu)	rs776906926	0.00001
NM_020458.4(TTC7A):c.2443G>T (p.Ala815Ser)	rs779096998	0.00001
NM_020458.4(TTC7A):c.436C>T (p.Arg146Trp)	rs138592761	0.00001
NM_020458.4(TTC7A):c.895T>A (p.Cys299Ser)	rs1198449310	0.00001
NM_020458.4(TTC7A):c.1199C>T (p.Ser400Leu)
NM_020458.4(TTC7A):c.1355T>C (p.Leu452Pro)
NM_020458.4(TTC7A):c.437G>T (p.Arg146Leu)	rs61746139

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