ClinVar Miner

List of variants studied for autosomal dominant medullary cystic kidney disease with or without hyperuricemia by Genome-Nilou Lab

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_003361.4(UMOD):c.522C>T (p.Cys174=) rs7193058 0.69325
NM_001204286.1(MUC1):c.93G>A (p.Thr31=) rs4072037 0.58553
NM_003361.4(UMOD):c.-47T>C rs75645968 0.03162

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