ClinVar Miner

List of variants in gene PKD1 reported as pathogenic by Centre for Mendelian Genomics,University Medical Centre Ljubljana

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Total variants: 7
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NM_001009944.3(PKD1):c.12035G>A (p.Trp4012Ter) rs777269070
NM_001009944.3(PKD1):c.2079dup (p.Pro694fs) rs1057518923
NM_001009944.3(PKD1):c.2215C>T (p.Arg739Trp) rs747483368
NM_001009944.3(PKD1):c.3520C>T (p.Gln1174Ter) rs1057518899
NM_001009944.3(PKD1):c.5086C>T (p.Gln1696Ter) rs1057518783
NM_001009944.3(PKD1):c.5896_5898GTG[1] (p.Val1967del) rs1555454847
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897

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