ClinVar Miner

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

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_003361.4(UMOD):c.106C>T (p.His36Tyr)
NM_003361.4(UMOD):c.230G>A (p.Cys77Tyr) rs121917768
NM_003361.4(UMOD):c.276C>G (p.Cys92Trp)
NM_003361.4(UMOD):c.278T>C (p.Val93Ala) rs2141676565
NM_003361.4(UMOD):c.278_289delinsCCGCCTCCT (p.Val93_Gly97delinsAlaAlaSerCys) rs878855325
NM_003361.4(UMOD):c.280T>G (p.Cys94Gly) rs2141676543
NM_003361.4(UMOD):c.281G>C (p.Cys94Ser) rs2141676533
NM_003361.4(UMOD):c.283C>T (p.Pro95Ser) rs2141676523
NM_003361.4(UMOD):c.286G>T (p.Glu96Ter) rs1357689052
NM_003361.4(UMOD):c.287_289del (p.Glu96del) rs2141676487
NM_003361.4(UMOD):c.307G>T (p.Gly103Cys) rs28934584
NM_003361.4(UMOD):c.317G>A (p.Cys106Tyr) rs398123697
NM_003361.4(UMOD):c.335G>A (p.Cys112Tyr) rs2141676232
NM_003361.4(UMOD):c.358T>G (p.Cys120Gly) rs1555487621
NM_003361.4(UMOD):c.376T>C (p.Cys126Arg) rs121917769
NM_003361.4(UMOD):c.383A>G (p.Asn128Ser) rs121917770
NM_003361.4(UMOD):c.443G>A (p.Cys148Tyr) rs28934582
NM_003361.4(UMOD):c.444T>G (p.Cys148Trp) rs1965741911
NM_003361.4(UMOD):c.490G>T (p.Glu164Ter) rs1057515585
NM_003361.4(UMOD):c.529_555del (p.His177_Arg185del) rs1555487528
NM_003361.4(UMOD):c.533G>C (p.Arg178Pro) rs1228791562
NM_003361.4(UMOD):c.553C>T (p.Arg185Cys) rs1567310155
NM_003361.4(UMOD):c.586G>A (p.Asp196Asn) rs1965729129
NM_003361.4(UMOD):c.649T>C (p.Cys217Arg) rs28934583
NM_003361.4(UMOD):c.649T>G (p.Cys217Gly) rs28934583
NM_003361.4(UMOD):c.651C>G (p.Cys217Trp) rs1596561934
NM_003361.4(UMOD):c.707C>G (p.Pro236Arg)
NM_003361.4(UMOD):c.707C>T (p.Pro236Leu) rs1447458978
NM_003361.4(UMOD):c.743G>C (p.Cys248Ser) rs398122388
NM_003361.4(UMOD):c.764G>A (p.Cys255Tyr) rs121917771
NM_003361.4(UMOD):c.817G>T (p.Val273Phe) rs121917774
NM_003361.4(UMOD):c.854C>A (p.Ala285Glu) rs766919534
NM_003361.4(UMOD):c.860G>A (p.Cys287Tyr)
NM_003361.4(UMOD):c.890G>A (p.Cys297Tyr) rs1596560944
NM_003361.4(UMOD):c.898T>G (p.Cys300Gly) rs121917772
NM_003361.4(UMOD):c.93G>C (p.Trp31Cys)
NM_003361.4(UMOD):c.943T>C (p.Cys315Arg) rs121917773
NM_003361.4(UMOD):c.947A>C (p.Gln316Pro) rs1555487318
NM_003361.4(UMOD):c.949T>G (p.Cys317Gly) rs1555487316

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