ClinVar Miner

List of variants studied for autosomal dominant medullary cystic kidney disease with or without hyperuricemia by 3billion, Medical Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_003361.4(UMOD):c.1382C>A (p.Ala461Glu) rs780475918
NM_003361.4(UMOD):c.1492C>T (p.Arg498Ter)
NM_003361.4(UMOD):c.175G>T (p.Asp59Tyr)
NM_003361.4(UMOD):c.197T>C (p.Leu66Pro) rs1567311288
NM_003361.4(UMOD):c.313G>T (p.Gly105Cys) rs747592262
NM_003361.4(UMOD):c.317G>A (p.Cys106Tyr) rs398123697
NM_003361.4(UMOD):c.808G>T (p.Gly270Cys) rs781101544

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