ClinVar Miner

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

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_003361.4(UMOD):c.*88G>A rs547514548 0.00004
NM_003361.4(UMOD):c.*59G>A rs886051783 0.00003
NM_003361.4(UMOD):c.*262C>G rs1422710573 0.00001
NM_003361.4(UMOD):c.*39C>T rs770789937 0.00001
NM_003361.4(UMOD):c.1131G>C (p.Trp377Cys) rs201738891 0.00001
NM_003361.4(UMOD):c.472G>A (p.Gly158Arg) rs1239315488 0.00001
NM_003361.4(UMOD):c.808G>A (p.Gly270Ser) rs781101544 0.00001
NM_003361.4(UMOD):c.*226_*229del rs886051782
NM_003361.4(UMOD):c.*231A>G rs886051781
NM_003361.4(UMOD):c.-57C>T rs767217667
NM_003361.4(UMOD):c.1182+5G>T rs755374625
NM_003361.4(UMOD):c.139G>A (p.Val47Ile) rs917737950
NM_003361.4(UMOD):c.1520A>G (p.Tyr507Cys) rs1965189208
NM_003361.4(UMOD):c.1859dup (p.Leu620fs) rs886051784
NM_003361.4(UMOD):c.480C>T (p.Asp160=) rs1965738932
NM_003361.4(UMOD):c.77C>T (p.Thr26Ile) rs769806862
NM_003361.4(UMOD):c.865+7C>G rs759063012
NM_003361.4(UMOD):c.895G>A (p.Glu299Lys) rs1965696937

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