ClinVar Miner

List of variants reported as likely pathogenic for Familial juvenile hyperuricemic nephropathy type 1 by Yale Center for Mendelian Genomics, Yale University

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_003361.4(UMOD):c.1382C>A (p.Ala461Glu)	rs780475918
NM_003361.4(UMOD):c.280T>C (p.Cys94Arg)	rs2141676543
NM_003361.4(UMOD):c.317G>A (p.Cys106Tyr)	rs398123697

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