ClinVar Miner

List of variants studied for Familial juvenile hyperuricemic nephropathy type 1 by Mendelics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_003361.4(UMOD):c.1406C>T (p.Thr469Met) rs143583842 0.00051
NM_003361.4(UMOD):c.263G>A (p.Gly88Asp) rs2141676609
NM_003361.4(UMOD):c.890G>A (p.Cys297Tyr) rs1596560944

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