ClinVar Miner

List of variants studied for Gastrointestinal defects and immunodeficiency syndrome 1 by Aleixo Muise Laboratory, Hospital For Sick Children

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Total variants: 7
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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.518G>A (p.Gly173Asp) rs1283566399 0.00001
NM_020458.4(TTC7A):c.1001+3_1001+6del rs587776971
NM_020458.4(TTC7A):c.1576C>T (p.Gln526Ter) rs786205698
NM_020458.4(TTC7A):c.2355+5G>A
NM_020458.4(TTC7A):c.2393C>T (p.Ala798Val)
NM_020458.4(TTC7A):c.315_318del (p.Asn104_Tyr105insTer) rs886037747

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