ClinVar Miner

List of variants in gene PKD1 reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 5
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HGVS dbSNP
NM_001009944.3(PKD1):c.1710C>T (p.His570=) rs367983387
NM_001009944.3(PKD1):c.3372C>T (p.Ala1124=) rs75510884
NM_001009944.3(PKD1):c.3375C>T (p.Ser1125=) rs74331768
NM_001009944.3(PKD1):c.4195T>C (p.Trp1399Arg) rs116092985
NM_001009944.3(PKD1):c.8949-17A>G rs9928278

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