ClinVar Miner

List of variants in gene PKHD1 reported as pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
Download table as spreadsheet
HGVS dbSNP
NM_138694.3(PKHD1):c.10174C>T (p.Gln3392Ter) rs201082169
NM_138694.3(PKHD1):c.10443delG (p.Leu3481Phefs) rs1554183559
NM_138694.3(PKHD1):c.10444C>T (p.Arg3482Cys) rs148617572
NM_138694.3(PKHD1):c.107C>T (p.Thr36Met) rs137852944
NM_138694.3(PKHD1):c.11612G>A (p.Trp3871Ter) rs1554167673
NM_138694.3(PKHD1):c.11G>A (p.Trp4Ter) rs1554229312
NM_138694.3(PKHD1):c.2811G>A (p.Trp937Ter) rs1344820986
NM_138694.3(PKHD1):c.3463C>T (p.Gln1155Ter) rs1554200780
NM_138694.3(PKHD1):c.353delG (p.Ser118Ilefs) rs398124483
NM_138694.3(PKHD1):c.3761_3762delCCinsG (p.Ala1254Glyfs) rs398124484
NM_138694.3(PKHD1):c.4141delG (p.Val1381Cysfs) rs778537772
NM_138694.3(PKHD1):c.4295delT (p.Val1432Glyfs) rs1246693314
NM_138694.3(PKHD1):c.4352_4356delCCTTGinsAAGGGGTCA (p.Pro1451Glnfs) rs1554198780
NM_138694.3(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019
NM_138694.3(PKHD1):c.5411delG (p.Arg1804Leufs) rs1554194574
NM_138694.3(PKHD1):c.5895dupA (p.Leu1966Thrfs) rs746838237
NM_138694.3(PKHD1):c.5953delG (p.Ala1985Hisfs)
NM_138694.3(PKHD1):c.6029delA (p.Gln2010Argfs)
NM_138694.3(PKHD1):c.664A>G (p.Ile222Val) rs369925690
NM_138694.3(PKHD1):c.6907A>T (p.Ile2303Phe) rs751084512
NM_138694.3(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145
NM_138694.3(PKHD1):c.7560dupT (p.Ala2521Cysfs) rs863224528
NM_138694.3(PKHD1):c.8108-?_8173+?del
NM_138694.3(PKHD1):c.8303-1G>A rs786204241
NM_138694.3(PKHD1):c.8677dup (p.His2893Profs) rs1554221465
NM_138694.3(PKHD1):c.8870T>C (p.Ile2957Thr) rs760222236
NM_138694.3(PKHD1):c.930delC (p.Thr311Leufs) rs398124501
NM_138694.3(PKHD1):c.9646C>T (p.Gln3216Ter) rs758732107
NM_138694.3(PKHD1):c.9689delA (p.Asp3230Valfs) rs398124502
NM_138694.3(PKHD1):c.9719G>A (p.Arg3240Gln)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.