ClinVar Miner

List of variants studied for Familial juvenile hyperuricemic nephropathy type 1 by Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe) rs398123697 0.00001
NM_003361.4(UMOD):c.197T>C (p.Leu66Pro) rs1567311288
NM_003361.4(UMOD):c.774G>C (p.Trp258Cys) rs1567309582

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