ClinVar Miner

List of variants reported as uncertain significance for Polycystic kidney disease 4 by Department of Pathology and Laboratory Medicine, Sinai Health System

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 56
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.11338C>T (p.Pro3780Ser) rs41273722 0.00140
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu) rs142526715 0.00137
NM_138694.4(PKHD1):c.2255C>T (p.Thr752Met) rs200654041 0.00087
NM_138694.4(PKHD1):c.7912-5T>G rs371510537 0.00075
NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu) rs150838488 0.00057
NM_138694.4(PKHD1):c.5731C>T (p.Arg1911Cys) rs149553146 0.00032
NM_138694.4(PKHD1):c.9478C>T (p.His3160Tyr) rs147351244 0.00020
NM_138694.4(PKHD1):c.10619A>G (p.Asp3540Gly) rs539832575 0.00013
NM_138694.4(PKHD1):c.10910G>A (p.Arg3637His) rs371329493 0.00011
NM_138694.4(PKHD1):c.11870G>A (p.Arg3957His) rs372357820 0.00011
NM_138694.4(PKHD1):c.2093G>A (p.Gly698Asp) rs199858063 0.00011
NM_138694.4(PKHD1):c.2444A>G (p.Gln815Arg) rs145789167 0.00009
NM_138694.4(PKHD1):c.4009G>A (p.Asp1337Asn) rs373255125 0.00009
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu) rs201105958 0.00009
NM_138694.4(PKHD1):c.4410C>T (p.Ser1470=) rs755526540 0.00007
NM_138694.4(PKHD1):c.6779A>G (p.Tyr2260Cys) rs374132086 0.00007
NM_138694.4(PKHD1):c.3703C>T (p.Arg1235Trp) rs376121326 0.00006
NM_138694.4(PKHD1):c.218G>A (p.Arg73Gln) rs577541526 0.00004
NM_138694.4(PKHD1):c.4558G>A (p.Val1520Met) rs201858937 0.00004
NM_138694.4(PKHD1):c.6626T>C (p.Leu2209Ser) rs757627773 0.00004
NM_138694.4(PKHD1):c.7469A>G (p.Asp2490Gly) rs746000400 0.00004
NM_138694.4(PKHD1):c.10402A>G (p.Ile3468Val) rs748863662 0.00003
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp) rs376040501 0.00003
NM_138694.4(PKHD1):c.11533C>A (p.Pro3845Thr) rs548244367 0.00003
NM_138694.4(PKHD1):c.12038G>A (p.Gly4013Asp) rs375680275 0.00003
NM_138694.4(PKHD1):c.3366C>T (p.Gly1122=) rs145979687 0.00003
NM_138694.4(PKHD1):c.10514G>A (p.Ser3505Asn) rs200244173 0.00002
NM_138694.4(PKHD1):c.3953A>T (p.His1318Leu) rs200733734 0.00002
NM_138694.4(PKHD1):c.6097A>G (p.Arg2033Gly) rs369626030 0.00002
NM_138694.4(PKHD1):c.10073A>G (p.Asp3358Gly) rs1323710410 0.00001
NM_138694.4(PKHD1):c.11210A>G (p.Tyr3737Cys) rs1206336265 0.00001
NM_138694.4(PKHD1):c.11740C>T (p.Arg3914Ter) rs761704401 0.00001
NM_138694.4(PKHD1):c.2171C>G (p.Pro724Arg) rs1229139298 0.00001
NM_138694.4(PKHD1):c.5885T>A (p.Ile1962Asn) rs756573585 0.00001
NM_138694.4(PKHD1):c.6074A>G (p.Tyr2025Cys) rs1554144226 0.00001
NM_138694.4(PKHD1):c.6580G>C (p.Glu2194Gln) rs774380534 0.00001
NM_138694.4(PKHD1):c.7486G>A (p.Gly2496Ser) rs747745685 0.00001
NM_138694.4(PKHD1):c.10075G>C (p.Gly3359Arg) rs747753565
NM_138694.4(PKHD1):c.103G>A (p.Gly35Arg)
NM_138694.4(PKHD1):c.1124G>C (p.Arg375Pro)
NM_138694.4(PKHD1):c.2351C>G (p.Thr784Arg)
NM_138694.4(PKHD1):c.3085G>C (p.Ala1029Pro)
NM_138694.4(PKHD1):c.4510A>T (p.Ile1504Phe)
NM_138694.4(PKHD1):c.4655T>A (p.Val1552Asp)
NM_138694.4(PKHD1):c.4676A>G (p.Tyr1559Cys)
NM_138694.4(PKHD1):c.4706T>G (p.Phe1569Cys)
NM_138694.4(PKHD1):c.4855G>A (p.Gly1619Ser)
NM_138694.4(PKHD1):c.5261A>G (p.His1754Arg)
NM_138694.4(PKHD1):c.5380+5G>T
NM_138694.4(PKHD1):c.6104G>T (p.Gly2035Val)
NM_138694.4(PKHD1):c.6116T>C (p.Leu2039Pro) rs777228780
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly) rs201881567
NM_138694.4(PKHD1):c.824C>G (p.Thr275Arg)
NM_138694.4(PKHD1):c.8675C>T (p.Pro2892Leu)
NM_138694.4(PKHD1):c.9719G>T (p.Arg3240Leu) rs146649803
NM_138694.4(PKHD1):c.9931G>A (p.Ala3311Thr)

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.