ClinVar Miner

List of variants in gene PKD1 reported as pathogenic for Inborn genetic diseases

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs) rs1555455457 0.00001
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp) rs752793757 0.00001
NM_000296.3:c.216-4133_5681del
NM_001009944.3(PKD1):c.10541dup (p.Arg3515fs) rs2151710347
NM_001009944.3(PKD1):c.10745dup (p.Val3584fs) rs1555447011
NM_001009944.3(PKD1):c.11280dup (p.Asp3761fs)
NM_001009944.3(PKD1):c.11299_11342del (p.Val3767fs) rs2544625256
NM_001009944.3(PKD1):c.11526G>A (p.Trp3842Ter) rs2544619656
NM_001009944.3(PKD1):c.11626_11653del (p.Ala3876fs) rs2544614209
NM_001009944.3(PKD1):c.11766G>A (p.Trp3922Ter) rs2091498706
NM_001009944.3(PKD1):c.11778dup (p.Arg3927fs) rs2544599759
NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter) rs766551411
NM_001009944.3(PKD1):c.12035G>A (p.Trp4012Ter) rs777269070
NM_001009944.3(PKD1):c.12365G>A (p.Trp4122Ter) rs2091438383
NM_001009944.3(PKD1):c.12608_12635del (p.Arg4203fs) rs2544578227
NM_001009944.3(PKD1):c.12673C>T (p.Gln4225Ter) rs2091395464
NM_001009944.3(PKD1):c.1944dup (p.Gly649fs) rs2544861242
NM_001009944.3(PKD1):c.2152C>T (p.Gln718Ter) rs1555458032
NM_001009944.3(PKD1):c.235del (p.Leu79fs) rs2544886159
NM_001009944.3(PKD1):c.2414del (p.Gly805fs) rs2544854273
NM_001009944.3(PKD1):c.2854-2A>G rs1555457488
NM_001009944.3(PKD1):c.3514C>T (p.Gln1172Ter)
NM_001009944.3(PKD1):c.3706C>T (p.Gln1236Ter) rs2544828429
NM_001009944.3(PKD1):c.412C>T (p.Arg138Ter) rs1596591955
NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter) rs1567200516
NM_001009944.3(PKD1):c.4795dup (p.Tyr1599fs) rs2544818419
NM_001009944.3(PKD1):c.4818del (p.Phe1607fs)
NM_001009944.3(PKD1):c.5510G>A (p.Trp1837Ter) rs2092450284
NM_001009944.3(PKD1):c.6115C>T (p.Gln2039Ter) rs755747732
NM_001009944.3(PKD1):c.6312_6318dup (p.Glu2107delinsHisArgTer) rs2544803846
NM_001009944.3(PKD1):c.6331G>T (p.Glu2111Ter)
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter) rs1555454411
NM_001009944.3(PKD1):c.670_691del (p.Leu224fs) rs2544880323
NM_001009944.3(PKD1):c.6919dup (p.Glu2307fs)
NM_001009944.3(PKD1):c.7126C>T (p.Gln2376Ter) rs1555453395
NM_001009944.3(PKD1):c.7138G>T (p.Glu2380Ter) rs778386729
NM_001009944.3(PKD1):c.7597_7598del (p.Ser2533fs) rs2544777946
NM_001009944.3(PKD1):c.7915C>T (p.Arg2639Ter) rs750913623
NM_001009944.3(PKD1):c.7921C>T (p.Gln2641Ter) rs764840802
NM_001009944.3(PKD1):c.7984C>T (p.Gln2662Ter) rs757768731
NM_001009944.3(PKD1):c.8056C>T (p.Gln2686Ter) rs779516086
NM_001009944.3(PKD1):c.8428G>T (p.Glu2810Ter) rs777608163
NM_001009944.3(PKD1):c.9195_9196del (p.Phe3066fs) rs2544732273
NM_001009944.3(PKD1):c.9340C>T (p.Gln3114Ter) rs2544730146
NM_001009944.3(PKD1):c.9561CAA[1] (p.Asn3188del) rs869312944
NM_001009944.3(PKD1):c.9584G>A (p.Trp3195Ter) rs2544716328

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