ClinVar Miner

List of variants reported as uncertain significance for Nephronophthisis 7

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 152
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_032575.3(GLIS2):c.*916G>A rs72766567 0.00935
NM_032575.3(GLIS2):c.*1826C>T rs757541 0.00418
NM_032575.3(GLIS2):c.*1761C>T rs370625022 0.00180
NM_032575.3(GLIS2):c.*1161G>A rs78428657 0.00175
NM_032575.3(GLIS2):c.*1988A>G rs139152543 0.00166
NM_032575.3(GLIS2):c.*2C>T rs144489623 0.00056
NM_032575.3(GLIS2):c.1105G>A (p.Gly369Ser) rs200720013 0.00056
NM_032575.3(GLIS2):c.*437A>C rs533863589 0.00047
NM_032575.3(GLIS2):c.*762C>T rs573926229 0.00037
NM_032575.3(GLIS2):c.239A>T (p.Asp80Val) rs144447862 0.00035
NM_032575.3(GLIS2):c.*663C>G rs571482423 0.00032
NM_032575.3(GLIS2):c.*1095G>A rs907099780 0.00030
NM_032575.3(GLIS2):c.*43G>A rs184772323 0.00030
NM_032575.3(GLIS2):c.1569G>A (p.Val523=) rs371022001 0.00025
NM_032575.3(GLIS2):c.1180G>A (p.Gly394Ser) rs775114398 0.00024
NM_032575.3(GLIS2):c.1431C>T (p.Pro477=) rs150810544 0.00023
NM_032575.3(GLIS2):c.693C>T (p.Asn231=) rs150071733 0.00023
NM_032575.3(GLIS2):c.*199G>A rs766877335 0.00019
NM_032575.3(GLIS2):c.*1830C>T rs578236633 0.00015
NM_032575.3(GLIS2):c.*1465G>A rs762692214 0.00014
NM_032575.3(GLIS2):c.*881C>T rs540618522 0.00014
NM_032575.3(GLIS2):c.*12G>A rs201860422 0.00011
NM_032575.3(GLIS2):c.505G>A (p.Val169Met) rs144844035 0.00011
NM_032575.3(GLIS2):c.651C>T (p.Asn217=) rs140609747 0.00011
NM_032575.3(GLIS2):c.1177G>A (p.Gly393Arg) rs759416922 0.00010
NM_032575.3(GLIS2):c.291G>A (p.Ser97=) rs529581775 0.00010
NM_032575.3(GLIS2):c.1273G>A (p.Gly425Arg) rs199849300 0.00009
NM_032575.3(GLIS2):c.1326C>T (p.Ala442=) rs767819594 0.00009
NM_032575.3(GLIS2):c.995G>A (p.Arg332His) rs148236093 0.00008
NM_032575.3(GLIS2):c.476C>T (p.Ser159Leu) rs374332556 0.00007
NM_032575.3(GLIS2):c.*757G>A rs556283047 0.00006
NM_032575.3(GLIS2):c.*1082G>A rs886051999 0.00005
NM_032575.3(GLIS2):c.*551C>G rs886051992 0.00005
NM_032575.3(GLIS2):c.*712C>G rs886051995 0.00005
NM_032575.3(GLIS2):c.*856C>T rs886051996 0.00005
NM_032575.3(GLIS2):c.*902C>T rs971389433 0.00005
NM_032575.3(GLIS2):c.1129G>A (p.Gly377Ser) rs758967813 0.00005
NM_032575.3(GLIS2):c.*1150C>T rs893552507 0.00004
NM_032575.3(GLIS2):c.*1553G>A rs1434276419 0.00004
NM_032575.3(GLIS2):c.*1791T>C rs886052003 0.00004
NM_032575.3(GLIS2):c.1244C>T (p.Pro415Leu) rs751855769 0.00004
NM_032575.3(GLIS2):c.1403C>T (p.Thr468Met) rs138285254 0.00004
NM_032575.3(GLIS2):c.1539G>A (p.Pro513=) rs769088578 0.00004
NM_032575.3(GLIS2):c.546G>A (p.Leu182=) rs182526202 0.00004
NM_032575.3(GLIS2):c.801C>T (p.Tyr267=) rs527861451 0.00004
NM_032575.3(GLIS2):c.*525C>T rs886051991 0.00003
NM_032575.3(GLIS2):c.*632G>A rs886051994 0.00003
NM_032575.3(GLIS2):c.101G>A (p.Arg34His) rs377037409 0.00003
NM_032575.3(GLIS2):c.1027G>A (p.Asp343Asn) rs568739931 0.00003
NM_032575.3(GLIS2):c.1128C>T (p.Pro376=) rs750906253 0.00003
NM_032575.3(GLIS2):c.1335G>C (p.Glu445Asp) rs761985295 0.00003
NM_032575.3(GLIS2):c.1420C>T (p.Arg474Trp) rs779581418 0.00003
NM_032575.3(GLIS2):c.1421G>A (p.Arg474Gln) rs952531818 0.00003
NM_032575.3(GLIS2):c.56C>T (p.Ala19Val) rs560306322 0.00003
NM_032575.3(GLIS2):c.628G>A (p.Ala210Thr) rs768457255 0.00003
NM_032575.3(GLIS2):c.903C>T (p.His301=) rs371341058 0.00003
NM_032575.3(GLIS2):c.100C>T (p.Arg34Cys) rs369113794 0.00002
NM_032575.3(GLIS2):c.1559C>T (p.Pro520Leu) rs144263133 0.00002
NM_032575.3(GLIS2):c.1560G>A (p.Pro520=) rs759274279 0.00002
NM_032575.3(GLIS2):c.1564G>A (p.Val522Met) rs901123781 0.00002
NM_032575.3(GLIS2):c.164C>T (p.Pro55Leu) rs775844299 0.00002
NM_032575.3(GLIS2):c.*516C>T rs982214507 0.00001
NM_032575.3(GLIS2):c.1033G>A (p.Gly345Ser) rs746233571 0.00001
NM_032575.3(GLIS2):c.1256C>T (p.Ser419Leu) rs781541345 0.00001
NM_032575.3(GLIS2):c.1388C>T (p.Thr463Met) rs373198635 0.00001
NM_032575.3(GLIS2):c.1510T>C (p.Leu504=) rs568866303 0.00001
NM_032575.3(GLIS2):c.1526T>G (p.Val509Gly) rs745941117 0.00001
NM_032575.3(GLIS2):c.275C>T (p.Pro92Leu) rs1208136034 0.00001
NM_032575.3(GLIS2):c.344C>T (p.Ser115Leu) rs771450245 0.00001
NM_032575.3(GLIS2):c.346-4C>G rs990927651 0.00001
NM_032575.3(GLIS2):c.479C>G (p.Pro160Arg) rs747387534 0.00001
NM_032575.3(GLIS2):c.589G>A (p.Glu197Lys) rs1043516792 0.00001
NM_032575.3(GLIS2):c.747C>T (p.Asn249=) rs763296256 0.00001
NM_032575.3(GLIS2):c.851C>T (p.Thr284Met) rs202161407 0.00001
NM_032575.3(GLIS2):c.*1046G>C rs886051998
NM_032575.3(GLIS2):c.*125G>A rs531374169
NM_032575.3(GLIS2):c.*1319A>G rs2053591653
NM_032575.3(GLIS2):c.*1628C>G rs886052001
NM_032575.3(GLIS2):c.*1700G>A rs886052002
NM_032575.3(GLIS2):c.*1710C>A rs977793955
NM_032575.3(GLIS2):c.*1911G>C rs1462021751
NM_032575.3(GLIS2):c.*1931C>G rs960392881
NM_032575.3(GLIS2):c.*1998C>G rs2053602695
NM_032575.3(GLIS2):c.*2021C>T rs2053603023
NM_032575.3(GLIS2):c.*204G>A rs2053573148
NM_032575.3(GLIS2):c.*2058G>A rs2053603535
NM_032575.3(GLIS2):c.*611G>A rs886051993
NM_032575.3(GLIS2):c.*849G>C rs757142602
NM_032575.3(GLIS2):c.1000C>G (p.Pro334Ala)
NM_032575.3(GLIS2):c.1004C>G (p.Pro335Arg) rs546324394
NM_032575.3(GLIS2):c.1038C>G (p.Pro346=)
NM_032575.3(GLIS2):c.1040A>C (p.Tyr347Ser) rs1161017853
NM_032575.3(GLIS2):c.1055A>G (p.Gln352Arg)
NM_032575.3(GLIS2):c.1090G>A (p.Gly364Ser)
NM_032575.3(GLIS2):c.1111C>A (p.Pro371Thr) rs753957878
NM_032575.3(GLIS2):c.113G>A (p.Arg38Lys)
NM_032575.3(GLIS2):c.1186G>A (p.Gly396Arg)
NM_032575.3(GLIS2):c.1226_1227del (p.Leu409fs)
NM_032575.3(GLIS2):c.1255T>C (p.Ser419Pro)
NM_032575.3(GLIS2):c.1262T>C (p.Phe421Ser)
NM_032575.3(GLIS2):c.1279G>C (p.Gly427Arg)
NM_032575.3(GLIS2):c.127G>A (p.Val43Met) rs886051989
NM_032575.3(GLIS2):c.1309G>A (p.Ala437Thr)
NM_032575.3(GLIS2):c.1327G>A (p.Glu443Lys) rs936495180
NM_032575.3(GLIS2):c.1338G>T (p.Lys446Asn)
NM_032575.3(GLIS2):c.133G>A (p.Asp45Asn)
NM_032575.3(GLIS2):c.1355C>A (p.Pro452His) rs776535774
NM_032575.3(GLIS2):c.1363G>A (p.Ala455Thr)
NM_032575.3(GLIS2):c.1375G>T (p.Glu459Ter)
NM_032575.3(GLIS2):c.1390C>T (p.Pro464Ser)
NM_032575.3(GLIS2):c.1393C>G (p.Leu465Val) rs774316267
NM_032575.3(GLIS2):c.1403C>A (p.Thr468Lys)
NM_032575.3(GLIS2):c.1412G>A (p.Ser471Asn)
NM_032575.3(GLIS2):c.1414T>C (p.Cys472Arg)
NM_032575.3(GLIS2):c.1429C>T (p.Pro477Ser)
NM_032575.3(GLIS2):c.1432G>A (p.Asp478Asn)
NM_032575.3(GLIS2):c.1441C>G (p.Pro481Ala)
NM_032575.3(GLIS2):c.1467C>A (p.Asp489Glu)
NM_032575.3(GLIS2):c.1475C>A (p.Thr492Lys)
NM_032575.3(GLIS2):c.1475C>T (p.Thr492Met) rs762640275
NM_032575.3(GLIS2):c.1544C>T (p.Ser515Leu)
NM_032575.3(GLIS2):c.161C>G (p.Ser54Cys)
NM_032575.3(GLIS2):c.199G>A (p.Glu67Lys)
NM_032575.3(GLIS2):c.208G>A (p.Glu70Lys)
NM_032575.3(GLIS2):c.210G>A (p.Glu70=) rs886051990
NM_032575.3(GLIS2):c.286A>G (p.Ser96Gly)
NM_032575.3(GLIS2):c.346G>A (p.Asp116Asn)
NM_032575.3(GLIS2):c.365A>G (p.Tyr122Cys)
NM_032575.3(GLIS2):c.410G>T (p.Gly137Val)
NM_032575.3(GLIS2):c.413C>G (p.Ser138Cys)
NM_032575.3(GLIS2):c.415G>C (p.Gly139Arg)
NM_032575.3(GLIS2):c.468G>C (p.Lys156Asn)
NM_032575.3(GLIS2):c.48G>C (p.Lys16Asn)
NM_032575.3(GLIS2):c.523-9C>T rs2053535570
NM_032575.3(GLIS2):c.545T>C (p.Leu182Pro)
NM_032575.3(GLIS2):c.614A>T (p.His205Leu) rs745469791
NM_032575.3(GLIS2):c.615C>A (p.His205Gln)
NM_032575.3(GLIS2):c.692A>C (p.Asn231Thr)
NM_032575.3(GLIS2):c.692A>G (p.Asn231Ser)
NM_032575.3(GLIS2):c.71G>A (p.Arg24Gln) rs774305330
NM_032575.3(GLIS2):c.774A>G (p.Thr258=)
NM_032575.3(GLIS2):c.776-1G>A
NM_032575.3(GLIS2):c.795C>A (p.Cys265Ter)
NM_032575.3(GLIS2):c.802G>A (p.Glu268Lys)
NM_032575.3(GLIS2):c.80C>A (p.Thr27Lys)
NM_032575.3(GLIS2):c.854G>A (p.Arg285His)
NM_032575.3(GLIS2):c.85G>T (p.Gly29Cys)
NM_032575.3(GLIS2):c.867G>A (p.Val289=)
NM_032575.3(GLIS2):c.901C>A (p.His301Asn)
NM_032575.3(GLIS2):c.952G>A (p.Gly318Ser)
NM_032575.3(GLIS2):c.953G>A (p.Gly318Asp)
NM_032575.3(GLIS2):c.95G>A (p.Arg32Gln)

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.