ClinVar Miner

List of variants in gene PKD1 reported as uncertain significance by Institute of Human Genetics, Cologne University

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.6838G>A (p.Glu2280Lys) rs375782776 0.00003
NM_001009944.3(PKD1):c.127C>G (p.Pro43Ala) rs1114167365 0.00002
NM_001009944.3(PKD1):c.5986G>A (p.Val1996Met) rs1114167373 0.00001
NM_001009944.3(PKD1):c.7286T>G (p.Met2429Arg) rs1430979320 0.00001
NM_001009944.3(PKD1):c.218A>G (p.Asp73Gly) rs2151826654
NM_001009944.3(PKD1):c.9575G>T (p.Ser3192Ile) rs2092040135
NM_001009944.3(PKD1):c.9637T>A (p.Phe3213Ile) rs2151740841

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