ClinVar Miner

List of variants studied for Familial juvenile hyperuricemic nephropathy type 1 by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_003361.4(UMOD):c.1561T>C (p.Phe521Leu)
NM_003361.4(UMOD):c.306del (p.Gly103fs)
NM_003361.4(UMOD):c.707C>G (p.Pro236Arg)
NM_006548.6(IGF2BP2):c.1718G>T (p.Arg573Leu)

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