List of variants studied for Autosomal dominant medullary cystic kidney disease with or without hyperuricemia

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_003361.4(UMOD):c.1901C>T (p.Thr634Ile)	rs751927256	0.00002
NM_000458.4(HNF1B):c.826C>T (p.Arg276Ter)
NM_003361.4(UMOD):c.272_274del (p.Ser91del)	rs1965755740
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.411C>G (p.Cys137Trp)	rs1197633531
NM_003361.4(UMOD):c.518C>A (p.Pro173Gln)
NM_003361.4(UMOD):c.544G>A (p.Glu182Lys)
NM_003361.4(UMOD):c.698G>T (p.Gly233Val)	rs1965720354
NM_003361.4(UMOD):c.768C>G (p.Cys256Trp)	rs774838407
NM_003361.4(UMOD):c.854C>A (p.Ala285Glu)	rs766919534
NM_007214.5(SEC63):c.1936-8G>T	rs115710123

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