ClinVar Miner

List of variants studied for FADD-related immunodeficiency by OMIM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_003824.4(FADD):c.313T>C (p.Cys105Arg) rs369869993 0.00006
NM_003824.4(FADD):c.315T>G (p.Cys105Trp) rs387906839
NM_003824.4(FADD):c.52_58del (p.Ser17_Ser18insTer) rs863224871

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