ClinVar Miner

List of variants in gene PKD1 reported as pathogenic by Ambry Genetics

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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.10745dup (p.Val3584fs) rs1555447011
NM_001009944.3(PKD1):c.11299_11342del (p.Val3767fs)
NM_001009944.3(PKD1):c.11778dup (p.Arg3927fs)
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.12673C>T (p.Gln4225Ter) rs2091395464
NM_001009944.3(PKD1):c.1944dup (p.Gly649fs)
NM_001009944.3(PKD1):c.2152C>T (p.Gln718Ter) rs1555458032
NM_001009944.3(PKD1):c.235del (p.Leu79fs)
NM_001009944.3(PKD1):c.2414del (p.Gly805fs)
NM_001009944.3(PKD1):c.2854-2A>G rs1555457488
NM_001009944.3(PKD1):c.412C>T (p.Arg138Ter) rs1596591955
NM_001009944.3(PKD1):c.4795dup (p.Tyr1599fs)
NM_001009944.3(PKD1):c.6115C>T (p.Gln2039Ter) rs755747732
NM_001009944.3(PKD1):c.6312_6318dup (p.Glu2107delinsHisArgTer)
NM_001009944.3(PKD1):c.7126C>T (p.Gln2376Ter) rs1555453395
NM_001009944.3(PKD1):c.7597_7598del (p.Ser2533fs)
NM_001009944.3(PKD1):c.7921C>T (p.Gln2641Ter) rs764840802
NM_001009944.3(PKD1):c.8428G>T (p.Glu2810Ter)
NM_001009944.3(PKD1):c.9340C>T (p.Gln3114Ter)
NM_001009944.3(PKD1):c.9561CAA[1] (p.Asn3188del) rs869312944
NM_001009944.3(PKD1):c.9584G>A (p.Trp3195Ter)

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