ClinVar Miner

List of variants studied for Familial juvenile hyperuricemic nephropathy type 1 by Institute of Human Genetics, Cologne University

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_003361.4(UMOD):c.1680C>G (p.Asp560Glu)	rs200473249	0.00002
NM_003361.4(UMOD):c.1463G>A (p.Gly488Asp)	rs1555486021
NM_003361.4(UMOD):c.202G>A (p.Glu68Lys)	rs1965761636
NM_003361.4(UMOD):c.742T>C (p.Cys248Arg)	rs1965716874

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