ClinVar Miner

List of variants in gene combination LOC126806211, 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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_020458.4(TTC7A):c.556C>T (p.Arg186Cys)	rs148347796	0.00170
NM_020458.4(TTC7A):c.563G>A (p.Arg188His)	rs147471840

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