ClinVar Miner

List of variants in gene PKHD1 reported as uncertain significance for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP
NM_138694.3(PKHD1):c.10230A>G (p.Gln3410=)
NM_138694.3(PKHD1):c.10926G>A (p.Met3642Ile) rs78518523
NM_138694.3(PKHD1):c.1119-18C>G
NM_138694.3(PKHD1):c.11578A>G (p.Ile3860Val) rs755986501
NM_138694.3(PKHD1):c.12027C>G (p.Tyr4009Ter) rs143616240
NM_138694.3(PKHD1):c.1234-10_1234-9delTTinsAC rs1554217929
NM_138694.3(PKHD1):c.2569G>A (p.Gly857Arg)
NM_138694.3(PKHD1):c.2948G>A (p.Cys983Tyr) rs1554208064
NM_138694.3(PKHD1):c.3537T>C (p.Asn1179=) rs141574387
NM_138694.3(PKHD1):c.3704G>A (p.Arg1235Gln) rs567239866
NM_138694.3(PKHD1):c.5908G>C (p.Gly1970Arg) rs794727592
NM_138694.3(PKHD1):c.776C>T (p.Ser259Leu) rs1160054242
NM_138694.3(PKHD1):c.7911+19T>C rs201017366
NM_138694.3(PKHD1):c.8174-10dupT rs566540835
NM_138694.3(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255
NM_138694.3(PKHD1):c.8951-13C>T
NM_138694.3(PKHD1):c.9402G>A (p.Lys3134=) rs143737660
NM_138694.3(PKHD1):c.9553G>A (p.Val3185Ile) rs145651593
NM_138694.3(PKHD1):c.9719G>T (p.Arg3240Leu) rs146649803
NM_138694.3(PKHD1):c.9788T>C (p.Val3263Ala) rs146519878

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.