ClinVar Miner

List of variants studied for Gastrointestinal defects and immunodeficiency syndrome 1 by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_020458.4(TTC7A):c.176C>G (p.Pro59Arg) rs201805434 0.00322
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.142A>G (p.Arg48Gly) rs557981380 0.00001
NM_020458.4(TTC7A):c.895T>A (p.Cys299Ser) rs1198449310 0.00001
NM_020458.4(TTC7A):c.437G>T (p.Arg146Leu) rs61746139

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