ClinVar Miner

List of variants in gene PKHD1 reported as benign for abdominal and pelvic region disorder

Included ClinVar conditions (956):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
Download table as spreadsheet
HGVS dbSNP
NM_138694.4(PKHD1):c.*2564A>G rs1414504
NM_138694.4(PKHD1):c.*3026A>G rs2784199
NM_138694.4(PKHD1):c.*3393C>A rs2784198
NM_138694.4(PKHD1):c.*374T>C rs2784201
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln) rs145184792
NM_138694.4(PKHD1):c.11340T>C (p.Pro3780=) rs17667728
NM_138694.4(PKHD1):c.11696A>G (p.Gln3899Arg) rs4715227
NM_138694.4(PKHD1):c.1185T>C (p.Asp395=) rs1896976
NM_138694.4(PKHD1):c.12143A>G (p.Gln4048Arg) rs9381994
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met) rs45500692
NM_138694.4(PKHD1):c.1877A>G (p.Lys626Arg) rs117122807
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg) rs115045643
NM_138694.4(PKHD1):c.2278C>T (p.Arg760Cys) rs9370096
NM_138694.4(PKHD1):c.2489A>G (p.Asn830Ser) rs62406032
NM_138694.4(PKHD1):c.3785C>T (p.Ala1262Val) rs9296669
NM_138694.4(PKHD1):c.5236+14A>G rs12210725
NM_138694.4(PKHD1):c.5608T>G (p.Leu1870Val) rs2435322
NM_138694.4(PKHD1):c.5896C>T (p.Leu1966=) rs1266923
NM_138694.4(PKHD1):c.6333-8_6333-7del rs138161138
NM_138694.4(PKHD1):c.7587G>A (p.Gly2529=) rs12210295
NM_138694.4(PKHD1):c.7734-4T>C rs7452724
NM_138694.4(PKHD1):c.7764A>G (p.Leu2588=) rs9349603
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala) rs7766366
NM_138694.4(PKHD1):c.8174-18dup rs566540835
NM_138694.4(PKHD1):c.8302+12T>A rs1571084
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly) rs150925674
NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys) rs142522748
NM_138694.4(PKHD1):c.9237G>A (p.Ala3079=) rs765525
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile) rs148932323

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.