ClinVar Miner

List of variants in gene ILDR1 studied for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 63
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001199799.2(ILDR1):c.1545T>G (p.Leu515=) rs2877561 0.73781
NM_001199799.2(ILDR1):c.791C>G (p.Pro264Arg) rs3915061 0.31231
NM_001199799.2(ILDR1):c.1238T>C (p.Ile413Thr) rs16832645 0.04001
NM_001199799.2(ILDR1):c.1325G>A (p.Arg442His) rs34883204 0.03980
NM_001199799.2(ILDR1):c.1498C>T (p.His500Tyr) rs34284625 0.03976
NM_001199799.2(ILDR1):c.1298G>A (p.Arg433Gln) rs35906279 0.02049
NM_001199799.2(ILDR1):c.1162T>C (p.Trp388Arg) rs35661993 0.01612
NM_001199799.2(ILDR1):c.726G>A (p.Ala242=) rs114464909 0.00814
NM_001199799.2(ILDR1):c.1581G>A (p.Gly527=) rs142243054 0.00402
NM_001199799.2(ILDR1):c.764C>T (p.Pro255Leu) rs144519399 0.00355
NM_001199799.2(ILDR1):c.1326C>A (p.Arg442=) rs148350512 0.00282
NM_001199799.2(ILDR1):c.227C>T (p.Ala76Val) rs143072070 0.00159
NM_001199799.2(ILDR1):c.1305C>A (p.Ser435Arg) rs35597690 0.00120
NM_001199799.2(ILDR1):c.225A>G (p.Ser75=) rs146402126 0.00098
NM_001199799.2(ILDR1):c.461C>T (p.Ser154Leu) rs115649165 0.00057
NM_001199799.2(ILDR1):c.379+10G>C rs200883040 0.00051
NM_001199799.2(ILDR1):c.1297C>T (p.Arg433Trp) rs140567004 0.00050
NM_001199799.2(ILDR1):c.1159T>C (p.Ser387Pro) rs150250182 0.00028
NM_001199799.2(ILDR1):c.772C>T (p.Gln258Ter) rs142746163 0.00019
NM_001199799.2(ILDR1):c.921A>G (p.Lys307=) rs370886914 0.00017
NM_001199799.2(ILDR1):c.1385G>A (p.Arg462Gln) rs200630651 0.00013
NM_001199799.2(ILDR1):c.1378G>A (p.Gly460Arg) rs559855953 0.00012
NM_001199799.2(ILDR1):c.972C>T (p.Val324=) rs138334785 0.00011
NM_001199799.2(ILDR1):c.794C>T (p.Ser265Phe) rs146027039 0.00010
NM_001199799.2(ILDR1):c.792G>A (p.Pro264=) rs186672543 0.00009
NM_001199799.2(ILDR1):c.1324C>T (p.Arg442Cys) rs141559449 0.00007
NM_001199799.2(ILDR1):c.1357C>T (p.Arg453Trp) rs376986803 0.00006
NM_001199799.2(ILDR1):c.660C>T (p.His220=) rs759965447 0.00006
NM_001199799.2(ILDR1):c.801C>G (p.Leu267=) rs149548365 0.00006
NM_001199799.2(ILDR1):c.929T>G (p.Phe310Cys) rs199882599 0.00006
NM_001199799.2(ILDR1):c.1160C>G (p.Ser387Cys) rs746732835 0.00005
NM_001199799.2(ILDR1):c.1461G>A (p.Arg487=) rs189004426 0.00005
NM_001199799.2(ILDR1):c.352C>T (p.Arg118Trp) rs774128939 0.00004
NM_001199799.2(ILDR1):c.1360G>A (p.Glu454Lys) rs727503097 0.00003
NM_001199799.2(ILDR1):c.1537C>T (p.Arg513Cys) rs767668911 0.00003
NM_001199799.2(ILDR1):c.451G>A (p.Gly151Arg) rs727503098 0.00003
NM_001199799.2(ILDR1):c.80C>T (p.Thr27Met) rs145984650 0.00003
NM_001199799.2(ILDR1):c.1194G>A (p.Ser398=) rs139810461 0.00002
NM_001199799.2(ILDR1):c.483A>T (p.Val161=) rs369002219 0.00002
NM_001199799.2(ILDR1):c.1291C>T (p.Arg431Cys) rs376510686 0.00001
NM_001199799.2(ILDR1):c.1388G>A (p.Arg463His) rs199571441 0.00001
NM_001199799.2(ILDR1):c.1433C>T (p.Ser478Phe) rs727503096 0.00001
NM_001199799.2(ILDR1):c.1560C>A (p.Gly520=) rs369318229 0.00001
NM_001199799.2(ILDR1):c.1600-13T>C rs567262350 0.00001
NM_001199799.2(ILDR1):c.25C>T (p.Pro9Ser) rs1217446345 0.00001
NM_001199799.2(ILDR1):c.73C>G (p.Leu25Val) rs727505226 0.00001
NM_001199799.2(ILDR1):c.*11C>T rs775202902
NM_001199799.2(ILDR1):c.-4C>T rs761442523
NM_001199799.2(ILDR1):c.1137G>C (p.Glu379Asp) rs1553743343
NM_001199799.2(ILDR1):c.1158G>C (p.Lys386Asn) rs1553743331
NM_001199799.2(ILDR1):c.1245G>T (p.Trp415Cys) rs140777020
NM_001199799.2(ILDR1):c.1357del (p.Arg453fs) rs759967990
NM_001199799.2(ILDR1):c.1425C>A (p.Gly475=) rs1183661317
NM_001199799.2(ILDR1):c.1526C>T (p.Pro509Leu) rs374884043
NM_001199799.2(ILDR1):c.1582A>G (p.Ser528Gly) rs727503095
NM_001199799.2(ILDR1):c.230-9del rs876657832
NM_001199799.2(ILDR1):c.255C>T (p.Gly85=) rs1553744679
NM_001199799.2(ILDR1):c.380-10T>A rs748442864
NM_001199799.2(ILDR1):c.486G>T (p.Lys162Asn) rs142554264
NM_001199799.2(ILDR1):c.561G>A (p.Val187=) rs775815087
NM_001199799.2(ILDR1):c.661C>T (p.Arg221Cys) rs182963279
NM_001199799.2(ILDR1):c.762C>T (p.His254=) rs397516638
NM_001199799.2(ILDR1):c.950T>G (p.Leu317Arg) rs1553743398

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.