ClinVar Miner

List of variants in gene ESPN reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 90
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_031475.3(ESPN):c.1895_1897del (p.Arg632_Ser633delinsPro) rs925875533 0.00040
NM_031475.3(ESPN):c.582A>T (p.Glu194Asp) rs372888541 0.00034
NM_031475.3(ESPN):c.1432C>T (p.Arg478Cys) rs780655335 0.00023
NM_031475.3(ESPN):c.2006C>T (p.Pro669Leu) rs146261521 0.00019
NM_031475.3(ESPN):c.95G>A (p.Arg32His) rs1006453315 0.00019
NM_031475.3(ESPN):c.2504G>A (p.Ser835Asn) rs727503039 0.00018
NM_031475.3(ESPN):c.2029G>A (p.Val677Met) rs777091021 0.00016
NM_031475.3(ESPN):c.2215C>G (p.Leu739Val) rs368795540 0.00016
NM_031475.3(ESPN):c.398C>T (p.Ala133Val) rs113467202 0.00016
NM_031475.3(ESPN):c.407A>G (p.Asp136Gly) rs143543872 0.00014
NM_031475.3(ESPN):c.1787C>T (p.Pro596Leu) rs1005676774 0.00013
NM_031475.3(ESPN):c.2230G>A (p.Asp744Asn) rs121908135 0.00013
NM_031475.3(ESPN):c.1489G>A (p.Gly497Arg) rs752185152 0.00012
NM_031475.3(ESPN):c.935C>T (p.Ser312Leu) rs189442618 0.00012
NM_031475.3(ESPN):c.1628T>G (p.Val543Gly) rs954222909 0.00011
NM_031475.3(ESPN):c.2417G>T (p.Arg806Leu) rs147100772 0.00011
NM_031475.3(ESPN):c.36G>T (p.Gln12His) rs900844475 0.00011
NM_031475.3(ESPN):c.1025C>T (p.Ser342Phe) rs199502924 0.00009
NM_031475.3(ESPN):c.2406-4C>T rs148975469 0.00008
NM_031475.3(ESPN):c.413G>T (p.Gly138Val) rs140382925 0.00008
NM_031475.3(ESPN):c.338G>A (p.Arg113His) rs367832657 0.00006
NM_031475.3(ESPN):c.1849C>T (p.Pro617Ser) rs1453416584 0.00004
NM_031475.3(ESPN):c.493G>A (p.Val165Met) rs867037570 0.00004
NM_031475.3(ESPN):c.950A>G (p.His317Arg) rs746845549 0.00004
NM_031475.3(ESPN):c.1682G>A (p.Arg561His) rs1166868196 0.00003
NM_031475.3(ESPN):c.2003C>T (p.Thr668Met) rs755317667 0.00003
NM_031475.3(ESPN):c.2225C>T (p.Thr742Met) rs754878916 0.00003
NM_031475.3(ESPN):c.2345G>A (p.Arg782Gln) rs764608871 0.00003
NM_031475.3(ESPN):c.56G>A (p.Arg19Lys) rs996170464 0.00003
NM_031475.3(ESPN):c.1450G>A (p.Ala484Thr) rs778336312 0.00002
NM_031475.3(ESPN):c.1943C>T (p.Pro648Leu) rs769077759 0.00002
NM_031475.3(ESPN):c.2065G>A (p.Asp689Asn) rs370178224 0.00002
NM_031475.3(ESPN):c.2120C>T (p.Pro707Leu) rs576917953 0.00002
NM_031475.3(ESPN):c.2416C>T (p.Arg806Trp) rs746244406 0.00002
NM_031475.3(ESPN):c.415G>A (p.Ala139Thr) rs756669745 0.00002
NM_031475.3(ESPN):c.807C>G (p.Asp269Glu) rs765338922 0.00002
NM_031475.3(ESPN):c.1148G>C (p.Cys383Ser) rs756254252 0.00001
NM_031475.3(ESPN):c.1277G>A (p.Gly426Glu) rs1368151613 0.00001
NM_031475.3(ESPN):c.1708C>T (p.Pro570Ser) rs1396313792 0.00001
NM_031475.3(ESPN):c.1828G>C (p.Ala610Pro) rs546618638 0.00001
NM_031475.3(ESPN):c.2069C>T (p.Ser690Leu) rs117053591 0.00001
NM_031475.3(ESPN):c.2245C>T (p.Pro749Ser) rs1177005438 0.00001
NM_031475.3(ESPN):c.2328G>C (p.Glu776Asp) rs1644071154 0.00001
NM_031475.3(ESPN):c.2360C>T (p.Pro787Leu) rs764022369 0.00001
NM_031475.3(ESPN):c.241G>A (p.Gly81Ser) rs768679881 0.00001
NM_031475.3(ESPN):c.2530G>A (p.Val844Ile) rs200429314 0.00001
NM_031475.3(ESPN):c.2561A>G (p.Tyr854Cys) rs369745516 0.00001
NM_031475.3(ESPN):c.536C>A (p.Ala179Glu) rs1267778352 0.00001
NM_031475.3(ESPN):c.731T>C (p.Met244Thr) rs745396109 0.00001
NM_031475.3(ESPN):c.1096_1098del (p.Leu366del) rs774970657
NM_031475.3(ESPN):c.1141G>A (p.Asp381Asn)
NM_031475.3(ESPN):c.1141G>T (p.Asp381Tyr) rs752565640
NM_031475.3(ESPN):c.1325C>T (p.Pro442Leu)
NM_031475.3(ESPN):c.1347CCCACC[3] (p.Pro453_Gly454insProPro)
NM_031475.3(ESPN):c.1496G>A (p.Arg499Gln) rs1480151877
NM_031475.3(ESPN):c.1582G>A (p.Gly528Ser)
NM_031475.3(ESPN):c.1661C>T (p.Pro554Leu)
NM_031475.3(ESPN):c.1692C>T (p.Leu564=)
NM_031475.3(ESPN):c.1702T>C (p.Ser568Pro) rs1382527684
NM_031475.3(ESPN):c.1759G>A (p.Ala587Thr)
NM_031475.3(ESPN):c.1793C>G (p.Pro598Arg)
NM_031475.3(ESPN):c.1852C>T (p.Pro618Ser)
NM_031475.3(ESPN):c.1912G>C (p.Gly638Arg)
NM_031475.3(ESPN):c.200_204delinsTCCAT (p.Ala67_Arg68delinsValHis) rs2522705932
NM_031475.3(ESPN):c.2061G>A (p.Gln687=)
NM_031475.3(ESPN):c.2132G>C (p.Gly711Ala)
NM_031475.3(ESPN):c.2167G>C (p.Val723Leu) rs370514263
NM_031475.3(ESPN):c.2170C>T (p.Pro724Ser)
NM_031475.3(ESPN):c.2257T>C (p.Trp753Arg) rs869312937
NM_031475.3(ESPN):c.2275G>C (p.Val759Leu) rs758958049
NM_031475.3(ESPN):c.2345G>T (p.Arg782Leu) rs764608871
NM_031475.3(ESPN):c.2424G>T (p.Glu808Asp)
NM_031475.3(ESPN):c.2468A>C (p.Gln823Pro) rs569232864
NM_031475.3(ESPN):c.246C>T (p.His82=)
NM_031475.3(ESPN):c.2549A>T (p.Asp850Val) rs1455313296
NM_031475.3(ESPN):c.26C>G (p.Ala9Gly) rs1642980162
NM_031475.3(ESPN):c.281G>T (p.Gly94Val)
NM_031475.3(ESPN):c.382G>A (p.Gly128Ser) rs145666801
NM_031475.3(ESPN):c.390C>A (p.Asp130Glu) rs112712922
NM_031475.3(ESPN):c.451T>A (p.Phe151Ile) rs139223525
NM_031475.3(ESPN):c.451T>C (p.Phe151Leu)
NM_031475.3(ESPN):c.544G>A (p.Glu182Lys)
NM_031475.3(ESPN):c.584G>A (p.Cys195Tyr) rs1348544836
NM_031475.3(ESPN):c.611A>C (p.His204Pro) rs2148518071
NM_031475.3(ESPN):c.612C>A (p.His204Gln) rs1274564987
NM_031475.3(ESPN):c.751G>T (p.Gly251Cys) rs2148518990
NM_031475.3(ESPN):c.761A>G (p.Lys254Arg) rs2522813284
NM_031475.3(ESPN):c.791G>A (p.Gly264Glu)
NM_031475.3(ESPN):c.800C>T (p.Ser267Leu) rs913527372
NM_031475.3(ESPN):c.853C>T (p.Leu285=) rs2148519258

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.