List of variants studied for Familial juvenile hyperuricemic nephropathy type 1 by Genomics England Pilot Project, Genomics England

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_003361.4(UMOD):c.278T>C (p.Val93Ala)	rs2141676565
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

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