ClinVar Miner

List of variants in gene SMARCA4 reported by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 83
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003072.5(SMARCA4):c.3168+31C>G rs2075021 0.39914
NM_003072.5(SMARCA4):c.1524T>C (p.His508=) rs7935 0.32239
NM_003072.5(SMARCA4):c.4887T>C (p.Asp1629=) rs7275 0.28266
NM_003072.5(SMARCA4):c.4053C>T (p.Asp1351=) rs28997582 0.04598
NM_003072.5(SMARCA4):c.4584C>T (p.Asp1528=) rs9105 0.04127
NM_003072.5(SMARCA4):c.1413G>A (p.Lys471=) rs17001073 0.03431
NM_003072.5(SMARCA4):c.1509A>G (p.Ala503=) rs17001075 0.03015
NM_003072.5(SMARCA4):c.915G>A (p.Pro305=) rs149573400 0.01397
NM_003072.5(SMARCA4):c.1419+8C>T rs115492175 0.01292
NM_003072.5(SMARCA4):c.1114T>C (p.Tyr372His) rs140192268 0.01034
NM_003072.5(SMARCA4):c.930C>A (p.Arg310=) rs146141457 0.00837
NM_003072.5(SMARCA4):c.1419+7T>C rs112977340 0.00546
NM_003072.5(SMARCA4):c.4494C>T (p.Tyr1498=) rs139505007 0.00434
NM_003072.5(SMARCA4):c.2001+8T>G rs112549813 0.00384
NM_003072.5(SMARCA4):c.1140C>T (p.His380=) rs114594206 0.00372
NM_003072.5(SMARCA4):c.589C>T (p.Pro197Ser) rs200664441 0.00291
NM_003072.5(SMARCA4):c.2275-3C>A rs117611401 0.00243
NM_003072.5(SMARCA4):c.2757C>T (p.Pro919=) rs113955216 0.00241
NM_003072.5(SMARCA4):c.981A>C (p.Pro327=) rs547268941 0.00233
NM_003072.5(SMARCA4):c.*1G>T rs76118382 0.00205
NM_003072.5(SMARCA4):c.4768+10G>A rs201665695 0.00200
NM_003072.5(SMARCA4):c.3045C>T (p.Gly1015=) rs56101423 0.00163
NM_003072.5(SMARCA4):c.1419+9C>T rs374635008 0.00128
NM_003072.5(SMARCA4):c.223-5C>T rs376775933 0.00066
NM_003072.5(SMARCA4):c.2967C>T (p.Pro989=) rs149874634 0.00051
NM_003072.5(SMARCA4):c.708T>C (p.Pro236=) rs62639303 0.00044
NM_003072.5(SMARCA4):c.3738C>T (p.Phe1246=) rs139943231 0.00039
NM_003072.5(SMARCA4):c.1791T>G (p.Pro597=) rs141806282 0.00038
NM_003072.5(SMARCA4):c.1419+4C>T rs370219784 0.00021
NM_003072.5(SMARCA4):c.747C>T (p.Tyr249=) rs756224211 0.00021
NM_003072.5(SMARCA4):c.441C>T (p.Ser147=) rs201372858 0.00016
NM_003072.5(SMARCA4):c.2739G>A (p.Pro913=) rs183695281 0.00014
NM_003072.5(SMARCA4):c.999C>T (p.Pro333=) rs538345417 0.00014
NM_003072.5(SMARCA4):c.2409T>C (p.Asn803=) rs199634608 0.00012
NM_003072.5(SMARCA4):c.1236C>T (p.Phe412=) rs140000691 0.00011
NM_003072.5(SMARCA4):c.2460C>T (p.Tyr820=) rs372410282 0.00010
NM_003072.5(SMARCA4):c.3975C>T (p.Arg1325=) rs144803359 0.00009
NM_003072.5(SMARCA4):c.960C>T (p.Pro320=) rs531365419 0.00009
NM_003072.5(SMARCA4):c.1119-6T>C rs368180712 0.00006
NM_003072.5(SMARCA4):c.1287G>A (p.Ala429=) rs143600641 0.00006
NM_003072.5(SMARCA4):c.2438+10C>T rs370782232 0.00006
NM_003072.5(SMARCA4):c.888G>A (p.Thr296=) rs545237924 0.00006
NM_001387283.1(SMARCA4):c.4174A>G (p.Ile1392Val) rs370424312 0.00005
NM_003072.5(SMARCA4):c.3830C>T (p.Pro1277Leu) rs746219091 0.00004
NM_003072.5(SMARCA4):c.4491C>T (p.Tyr1497=) rs755142737 0.00004
NM_003072.5(SMARCA4):c.1748A>G (p.Lys583Arg) rs1043517699 0.00003
NM_003072.5(SMARCA4):c.3066C>T (p.Ser1022=) rs149111403 0.00003
NM_003072.5(SMARCA4):c.3429C>T (p.Asn1143=) rs768127028 0.00003
NM_003072.5(SMARCA4):c.3894C>T (p.Asp1298=) rs373041389 0.00002
NM_003072.5(SMARCA4):c.4593C>T (p.Leu1531=) rs757189400 0.00002
NM_003072.5(SMARCA4):c.2418C>T (p.Phe806=) rs770432256 0.00001
NM_003072.5(SMARCA4):c.305G>T (p.Gly102Val) rs746602808 0.00001
NM_003072.5(SMARCA4):c.3546+9G>A rs544551192 0.00001
NM_003072.5(SMARCA4):c.3922C>T (p.Arg1308Trp) rs587779750 0.00001
NM_003072.5(SMARCA4):c.4152G>A (p.Thr1384=) rs372620534 0.00001
NM_003072.5(SMARCA4):c.4834G>A (p.Gly1612Ser) rs372319442 0.00001
NM_003072.5(SMARCA4):c.961G>A (p.Ala321Thr) rs1344296942 0.00001
NM_003072.5(SMARCA4):c.*9A>T rs369766168
NM_003072.5(SMARCA4):c.1118+7del rs774132615
NM_003072.5(SMARCA4):c.120C>T (p.His40=) rs375884151
NM_003072.5(SMARCA4):c.1521_1523dup (p.His508dup) rs2145940595
NM_003072.5(SMARCA4):c.223-4G>A rs763383326
NM_003072.5(SMARCA4):c.2584T>G (p.Tyr862Asp) rs2146375696
NM_003072.5(SMARCA4):c.2647G>A (p.Gly883Ser) rs1568486679
NM_003072.5(SMARCA4):c.2837C>G (p.Pro946Arg) rs1555778830
NM_003072.5(SMARCA4):c.2859+8T>G rs1555778883
NM_003072.5(SMARCA4):c.2890ATC[1] (p.Ile965del) rs797045979
NM_003072.5(SMARCA4):c.2896C>T (p.Arg966Trp) rs1227826852
NM_003072.5(SMARCA4):c.2922del (p.Phe975fs) rs797045980
NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln)
NM_003072.5(SMARCA4):c.3021C>T (p.Leu1007=) rs1555780015
NM_003072.5(SMARCA4):c.3127C>T (p.Arg1043Trp) rs770014321
NM_003072.5(SMARCA4):c.3475G>A (p.Gly1159Arg) rs2146600812
NM_003072.5(SMARCA4):c.3480dup (p.Leu1161fs) rs797045982
NM_003072.5(SMARCA4):c.3732C>T (p.Arg1244=) rs797045983
NM_003072.5(SMARCA4):c.3734C>G (p.Ala1245Gly) rs797045984
NM_003072.5(SMARCA4):c.3783C>G (p.His1261Gln) rs797045985
NM_003072.5(SMARCA4):c.4303G>A (p.Asp1435Asn) rs796506759
NM_003072.5(SMARCA4):c.4414T>G (p.Tyr1472Asp) rs797045986
NM_003072.5(SMARCA4):c.4620C>T (p.Asn1540=) rs751869068
NM_003072.5(SMARCA4):c.4667del (p.Val1556fs) rs797045987
NM_003072.5(SMARCA4):c.722_733del (p.229GP[6]) rs568390760
NM_003072.5(SMARCA4):c.791G>C (p.Gly264Ala) rs797045988

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.