ClinVar Miner

List of variants reported as not provided for Familial juvenile hyperuricemic nephropathy type 1

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_003361.4(UMOD):c.1919A>G (p.Gln640Arg) rs776685236 0.00002
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe) rs398123697 0.00001
NM_003361.4(UMOD):c.148T>A (p.Cys50Ser) rs2141677149
NM_003361.4(UMOD):c.278_289delinsCCGCCTCCT (p.Val93_Gly97delinsAlaAlaSerCys) rs878855325
NM_003361.4(UMOD):c.335G>A (p.Cys112Tyr) rs2141676232
NM_003361.4(UMOD):c.503T>C (p.Leu168Pro) rs2141675428
NM_003361.4(UMOD):c.529_555del (p.His177_Arg185del) rs1555487528
NM_003361.4(UMOD):c.744C>G (p.Cys248Trp) rs886043751
NM_003361.4(UMOD):c.800G>T (p.Cys267Phe) rs2141674031
NM_003361.4(UMOD):c.808G>T (p.Gly270Cys) rs781101544

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