ClinVar Miner

List of variants studied for Gastrointestinal defects and immunodeficiency syndrome 1 by Revvity Omics, Revvity

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_020458.4(TTC7A):c.1957A>G (p.Thr653Ala) rs113303079 0.00025
NM_020458.4(TTC7A):c.2018-1G>C rs948534045 0.00002
NM_020458.4(TTC7A):c.2443G>T (p.Ala815Ser) rs779096998 0.00001
NM_020458.4(TTC7A):c.1919+1G>A rs751311194

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