ClinVar Miner

List of variants in gene PKD1 reported as likely pathogenic by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.10051-1G>T rs1245329669
NM_001009944.3(PKD1):c.11342ACG[3] (p.Asp3782_Val3783insAsp) rs2091618553
NM_001009944.3(PKD1):c.1307G>T (p.Cys436Phe) rs2092660360
NM_001009944.3(PKD1):c.4379T>G (p.Val1460Gly) rs2151797664
NM_001009944.3(PKD1):c.694T>C (p.Cys232Arg) rs2151824152
NM_001009944.3(PKD1):c.7313T>C (p.Leu2438Pro) rs2544781523
NM_001009944.3(PKD1):c.7484G>A (p.Cys2495Tyr) rs2544780036
NM_001009944.3(PKD1):c.7535T>G (p.Leu2512Arg) rs2151772458
NM_001009944.3(PKD1):c.8302G>T (p.Val2768Leu) rs1456510041

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