ClinVar Miner

List of variants reported as likely benign for Familial juvenile hyperuricemic nephropathy type 1 by Illumina Laboratory Services, Illumina

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_003361.4(UMOD):c.1062C>T (p.Phe354=) rs78613713 0.00339
NM_003361.4(UMOD):c.1375C>T (p.Arg459Trp) rs139607138 0.00143
NM_003361.4(UMOD):c.1406C>T (p.Thr469Met) rs143583842 0.00051
NM_003361.4(UMOD):c.1500A>G (p.Ala500=) rs200895986 0.00051
NM_003361.4(UMOD):c.1916T>C (p.Phe639Ser) rs145165861 0.00016
NM_003361.4(UMOD):c.1383G>A (p.Ala461=) rs147222401 0.00010
NM_003361.4(UMOD):c.1243C>T (p.Arg415Cys) rs758221597 0.00003
NM_003361.4(UMOD):c.1123C>T (p.Arg375Trp) rs373609971 0.00001
NM_003361.4(UMOD):c.-14del rs764637746

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