List of variants reported as pathogenic for Familial juvenile hyperuricemic nephropathy type 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_003361.4(UMOD):c.278_289delinsCCGCCTCCT (p.Val93_Gly97delinsAlaAlaSerCys)	rs878855325
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.376T>C (p.Cys126Arg)	rs121917769
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.707C>T (p.Pro236Leu)	rs1447458978
NM_003361.4(UMOD):c.854C>A (p.Ala285Glu)	rs766919534
NM_003361.4(UMOD):c.860G>A (p.Cys287Tyr)
NM_003361.4(UMOD):c.949T>G (p.Cys317Gly)	rs1555487316

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