ClinVar Miner

List of variants reported as pathogenic for Autosomal dominant medullary cystic kidney disease with or without hyperuricemia

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000458.4(HNF1B):c.826C>T (p.Arg276Ter)
NM_003361.4(UMOD):c.278_289delinsCCGCCTCCT (p.Val93_Gly97delinsAlaAlaSerCys)	rs878855325
NM_003361.4(UMOD):c.317G>A (p.Cys106Tyr)	rs398123697

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