ClinVar Miner

List of variants studied for Immunodeficiency 78 with autoimmunity and developmental delay by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001330588.2(TPP2):c.1270A>G (p.Ile424Val) rs146267750 0.00007
NM_001330588.2(TPP2):c.2237T>A (p.Ile746Asn) rs148250766 0.00004
NM_001330588.2(TPP2):c.3136A>G (p.Met1046Val) rs2139571721

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