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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HGVS dbSNP
NM_000296.3(PKD1):c.445delC (p.Gln149Serfs) rs796052133
NM_001009944.2(PKD1):c.10348G>T (p.Glu3450Ter) rs780009030
NM_001009944.2(PKD1):c.10487delT (p.Leu3496Argfs) rs1555448106
NM_001009944.2(PKD1):c.1148C>A (p.Ser383Ter) rs1286585831
NM_001009944.2(PKD1):c.12499delA (p.Arg4167Glyfs) rs1555444249
NM_001009944.2(PKD1):c.5809delT (p.Ser1937Profs) rs1555454915
NM_001009944.2(PKD1):c.7925_7926delTA (p.Ile2642Thrfs) rs1555452400
NM_001009944.2(PKD1):c.8998dup (p.Arg3000Profs) rs1555450475
NM_001009944.2(PKD1):c.9988_9989insA (p.Ser3330Lysfs) rs796053523

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