ClinVar Miner

List of variants in gene PKD1 reported by Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.11661del (p.Phe3888fs) rs2151695275
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100
NM_001009944.3(PKD1):c.5693dup (p.Val1899fs) rs1567195868
NM_001009944.3(PKD1):c.6916-9G>A rs1567190244
NM_001009944.3(PKD1):c.7111del (p.Val2371fs) rs1567187420

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