ClinVar Miner

List of variants in gene PKD1 reported by Centre for Genetic Disorders, Banaras Hindu University

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Total variants: 9
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NM_001009944.3(PKD1):c.10348G>T (p.Glu3450Ter) rs780009030
NM_001009944.3(PKD1):c.10487del (p.Leu3496fs) rs1555448106
NM_001009944.3(PKD1):c.1148C>A (p.Ser383Ter) rs1286585831
NM_001009944.3(PKD1):c.12499del (p.Arg4167fs) rs1555444249
NM_001009944.3(PKD1):c.445del (p.Gln149fs) rs796052133
NM_001009944.3(PKD1):c.5809del (p.Ser1937fs) rs1555454915
NM_001009944.3(PKD1):c.7925_7926del (p.Ile2642fs) rs1555452400
NM_001009944.3(PKD1):c.8998dup (p.Arg3000fs) rs1555450475
NM_001009944.3(PKD1):c.9988dup (p.Ser3330fs) rs796053523

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