ClinVar Miner

List of variants in gene UNC80 reported as pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 61
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001371986.1(UNC80):c.1513C>T (p.Arg505Ter) rs767633598 0.00002
NM_001371986.1(UNC80):c.6373C>T (p.Arg2125Ter) rs940057866 0.00002
NM_001371986.1(UNC80):c.1078C>T (p.Arg360Ter) rs200659479 0.00001
NM_001371986.1(UNC80):c.2527C>T (p.Arg843Ter) rs74517001 0.00001
NM_001371986.1(UNC80):c.286C>T (p.Arg96Ter) rs538956139 0.00001
NM_001371986.1(UNC80):c.4063C>T (p.Arg1355Ter) rs750226213 0.00001
NM_001371986.1(UNC80):c.4678C>T (p.Arg1560Ter) rs940692104 0.00001
NM_001371986.1(UNC80):c.4846G>T (p.Glu1616Ter) rs1475433563 0.00001
NM_001371986.1(UNC80):c.520C>T (p.Arg174Ter) rs751913925 0.00001
NM_001371986.1(UNC80):c.9520C>T (p.Arg3174Ter) rs1559456419 0.00001
NC_000002.11:g.(?_210636797)_(210658603_?)del
NC_000002.12:g.209818993_209818994del
NM_001371986.1(UNC80):c.1228dup (p.Glu410fs)
NM_001371986.1(UNC80):c.1351G>T (p.Glu451Ter) rs2079784277
NM_001371986.1(UNC80):c.1357C>T (p.Arg453Ter) rs2079784643
NM_001371986.1(UNC80):c.1357del (p.Arg453fs) rs1574574226
NM_001371986.1(UNC80):c.1817del (p.Pro606fs)
NM_001371986.1(UNC80):c.1858C>T (p.Arg620Ter) rs2153827732
NM_001371986.1(UNC80):c.2019_2020del (p.Cys673_Asp674delinsTer)
NM_001371986.1(UNC80):c.2224G>T (p.Gly742Ter)
NM_001371986.1(UNC80):c.2470C>T (p.Arg824Ter) rs1274923045
NM_001371986.1(UNC80):c.3190C>T (p.Arg1064Ter) rs1035839091
NM_001371986.1(UNC80):c.3205C>T (p.Arg1069Ter)
NM_001371986.1(UNC80):c.3226C>T (p.Arg1076Ter)
NM_001371986.1(UNC80):c.3328C>T (p.Arg1110Ter)
NM_001371986.1(UNC80):c.3535C>T (p.Arg1179Ter)
NM_001371986.1(UNC80):c.3853C>T (p.Arg1285Ter) rs1574855486
NM_001371986.1(UNC80):c.3894del (p.Asn1299fs)
NM_001371986.1(UNC80):c.3933dup (p.Arg1312fs)
NM_001371986.1(UNC80):c.409C>T (p.Arg137Ter) rs1289499829
NM_001371986.1(UNC80):c.422G>A (p.Trp141Ter)
NM_001371986.1(UNC80):c.4566del (p.Asn1522fs)
NM_001371986.1(UNC80):c.4609_4610del (p.Ser1537fs)
NM_001371986.1(UNC80):c.4985G>A (p.Trp1662Ter)
NM_001371986.1(UNC80):c.5476C>T (p.Gln1826Ter) rs2124953130
NM_001371986.1(UNC80):c.5642_5657dup (p.Glu1887fs)
NM_001371986.1(UNC80):c.5706_5710del (p.Gln1903fs)
NM_001371986.1(UNC80):c.5869C>T (p.Arg1957Ter) rs1262654975
NM_001371986.1(UNC80):c.5913del (p.Glu1971fs)
NM_001371986.1(UNC80):c.6036G>A (p.Trp2012Ter)
NM_001371986.1(UNC80):c.6039del (p.Met2014fs)
NM_001371986.1(UNC80):c.6139C>T (p.Gln2047Ter)
NM_001371986.1(UNC80):c.6184A>T (p.Lys2062Ter)
NM_001371986.1(UNC80):c.6216C>A (p.Cys2072Ter)
NM_001371986.1(UNC80):c.6445C>T (p.Gln2149Ter) rs1336618986
NM_001371986.1(UNC80):c.6475C>T (p.Arg2159Ter)
NM_001371986.1(UNC80):c.667C>T (p.Gln223Ter)
NM_001371986.1(UNC80):c.6893G>A (p.Trp2298Ter) rs1064796916
NM_001371986.1(UNC80):c.7645C>T (p.Arg2549Ter) rs2092524250
NM_001371986.1(UNC80):c.7700_7701del (p.Thr2567fs) rs1575147319
NM_001371986.1(UNC80):c.7782dup (p.Leu2595fs)
NM_001371986.1(UNC80):c.8008C>T (p.Arg2670Ter)
NM_001371986.1(UNC80):c.820del (p.Thr274fs) rs2153825777
NM_001371986.1(UNC80):c.8494_8495dup (p.Ser2832fs)
NM_001371986.1(UNC80):c.8698del (p.Trp2900fs) rs886043644
NM_001371986.1(UNC80):c.871C>T (p.Arg291Ter)
NM_001371986.1(UNC80):c.8908del (p.Ile2970fs)
NM_001371986.1(UNC80):c.8940dup (p.Tyr2981fs) rs2125019136
NM_001371986.1(UNC80):c.9350_9356del (p.Asn3117fs) rs2125032555
NM_001371986.1(UNC80):c.9612_9615dup (p.Pro3206fs)
NM_001371986.1(UNC80):c.9643G>T (p.Glu3215Ter)

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.