ClinVar Miner

List of variants reported for Syndromic multisystem autoimmune disease due to ITCH deficiency 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_031483.7(ITCH):c.409A>G (p.Ile137Val) rs138451400 0.00006
NM_031483.7(ITCH):c.1570-3del rs759646195
NM_031483.7(ITCH):c.2345A>G (p.Lys782Arg) rs1420460046

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