ClinVar Miner

List of variants reported as likely pathogenic for Familial juvenile hyperuricemic nephropathy type 1

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Total variants: 30
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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.1196A>G (p.His399Arg) rs1596552335
NM_003361.4(UMOD):c.1382C>A (p.Ala461Glu) rs780475918
NM_003361.4(UMOD):c.1463G>A (p.Gly488Asp) rs1555486021
NM_003361.4(UMOD):c.1492C>T (p.Arg498Ter)
NM_003361.4(UMOD):c.150C>G (p.Cys50Trp) rs1965764292
NM_003361.4(UMOD):c.175G>T (p.Asp59Tyr)
NM_003361.4(UMOD):c.189C>G (p.Cys63Trp) rs1199326518
NM_003361.4(UMOD):c.197T>C (p.Leu66Pro) rs1567311288
NM_003361.4(UMOD):c.203A>T (p.Glu68Val) rs2141676976
NM_003361.4(UMOD):c.249C>G (p.Cys83Trp) rs1449715458
NM_003361.4(UMOD):c.263G>A (p.Gly88Asp) rs2141676609
NM_003361.4(UMOD):c.272_274del (p.Ser91del) rs1965755740
NM_003361.4(UMOD):c.280T>C (p.Cys94Arg) rs2141676543
NM_003361.4(UMOD):c.313G>T (p.Gly105Cys) rs747592262
NM_003361.4(UMOD):c.317G>A (p.Cys106Tyr) rs398123697
NM_003361.4(UMOD):c.376T>C (p.Cys126Arg) rs121917769
NM_003361.4(UMOD):c.533G>C (p.Arg178Pro) rs1228791562
NM_003361.4(UMOD):c.548A>G (p.Tyr183Cys) rs1064796542
NM_003361.4(UMOD):c.552G>C (p.Trp184Cys) rs1965732404
NM_003361.4(UMOD):c.586G>A (p.Asp196Asn) rs1965729129
NM_003361.4(UMOD):c.587A>G (p.Asp196Gly) rs1060499657
NM_003361.4(UMOD):c.610C>G (p.Arg204Gly) rs1567310019
NM_003361.4(UMOD):c.610C>T (p.Arg204Cys)
NM_003361.4(UMOD):c.688T>A (p.Trp230Arg)
NM_003361.4(UMOD):c.742T>C (p.Cys248Arg) rs1965716874
NM_003361.4(UMOD):c.774G>C (p.Trp258Cys) rs1567309582
NM_003361.4(UMOD):c.808G>T (p.Gly270Cys) rs781101544
NM_003361.4(UMOD):c.947A>C (p.Gln316Pro) rs1555487318
NM_003361.4(UMOD):c.949T>G (p.Cys317Gly) rs1555487316

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