ClinVar Miner

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

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Total variants: 5
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HGVS dbSNP
NM_000296.3(PKD1):c.2180T>C (p.Leu727Pro)
NM_000296.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100
NM_001009944.2(PKD1):c.5693dup (p.Val1899Glyfs)
NM_001009944.2(PKD1):c.6916-9G>A
NM_001009944.2:c.7111delG

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