ClinVar Miner

List of variants in gene AGRN reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_198576.4(AGRN):c.2563G>A (p.Val855Met) rs200684031 0.00027
NM_198576.4(AGRN):c.1343G>A (p.Arg448Gln) rs772102866 0.00009
NM_198576.4(AGRN):c.4735G>A (p.Gly1579Ser) rs556296275 0.00006
NM_198576.4(AGRN):c.1385-42G>C rs200373411 0.00005
NM_198576.4(AGRN):c.2647G>A (p.Gly883Ser) rs145162376 0.00005
NM_198576.4(AGRN):c.4999G>A (p.Val1667Met) rs770750909 0.00003
NM_198576.4(AGRN):c.3973_3979dup (p.Gln1327fs) rs1645159594 0.00002
NM_198576.4(AGRN):c.4217_4218del (p.Gln1406fs) rs770470615 0.00001
NM_198576.4(AGRN):c.4744G>A (p.Gly1582Arg) rs1367262797 0.00001
1p36.33 deletion (0.48 Mb)
NC_000001.10:g.(?_954503)_(992499_?)del
NM_198576.4(AGRN):c.1036_1039dup (p.Glu347fs) rs1570195582
NM_198576.4(AGRN):c.1057C>T (p.Gln353Ter) rs587777299
NM_198576.4(AGRN):c.1077_1083del (p.Asp359fs) rs2100635216
NM_198576.4(AGRN):c.1105_1106del (p.Val369fs) rs2100635414
NM_198576.4(AGRN):c.1197C>A (p.Cys399Ter)
NM_198576.4(AGRN):c.1275C>G (p.Tyr425Ter) rs1239736447
NM_198576.4(AGRN):c.1323G>A (p.Trp441Ter) rs1557702487
NM_198576.4(AGRN):c.1668del (p.Ser557fs)
NM_198576.4(AGRN):c.1734C>A (p.Cys578Ter)
NM_198576.4(AGRN):c.2002G>T (p.Glu668Ter) rs199801106
NM_198576.4(AGRN):c.2500C>T (p.Arg834Ter) rs1645065317
NM_198576.4(AGRN):c.2645_2654del (p.Asp882fs)
NM_198576.4(AGRN):c.3003dup (p.Gly1002fs) rs763573703
NM_198576.4(AGRN):c.3229del (p.Ala1077fs)
NM_198576.4(AGRN):c.3497_3500del (p.Ala1166fs)
NM_198576.4(AGRN):c.3724C>T (p.Gln1242Ter) rs2100666336
NM_198576.4(AGRN):c.4389G>A (p.Trp1463Ter)
NM_198576.4(AGRN):c.5011C>T (p.Arg1671Ter)
NM_198576.4(AGRN):c.5125G>C (p.Gly1709Arg) rs199476396
NM_198576.4(AGRN):c.543dup (p.Val182fs) rs1425913203
NM_198576.4(AGRN):c.5554_5555dup (p.Glu1853fs) rs2100689699
NM_198576.4(AGRN):c.5703del (p.Thr1902fs) rs2100699601
NM_198576.4(AGRN):c.574_578dup (p.Ser194fs) rs1570190059
NM_198576.4(AGRN):c.5753_5754del (p.Tyr1918fs) rs753401796
NM_198576.4(AGRN):c.893_903del (p.Leu298fs)
NM_198576.4(AGRN):c.902_912del (p.Arg301fs) rs1570193864
NM_198576.4(AGRN):c.914_947del (p.Arg305fs) rs1557700705

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.