ClinVar Miner

List of variants in gene GFM1 reported as pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 99
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys) rs201408725 0.00006
NM_024996.7(GFM1):c.850C>T (p.Arg284Ter) rs771890880 0.00005
NM_024996.7(GFM1):c.1765-2_1765-1del rs1245712932 0.00003
NM_024996.7(GFM1):c.1823G>A (p.Arg608Gln) rs541171482 0.00003
NM_024996.7(GFM1):c.720del (p.Glu241fs) rs745718158 0.00003
NM_024996.7(GFM1):c.114del (p.Gly39_Val40insTer) rs866873846 0.00002
NM_024996.7(GFM1):c.1255_1277dup (p.Ser427fs) rs753352064 0.00002
NM_024996.7(GFM1):c.1576C>T (p.Arg526Ter) rs1004779078 0.00002
NM_024996.7(GFM1):c.661C>T (p.Arg221Ter) rs780762234 0.00002
NM_024996.7(GFM1):c.689+908G>A rs751069628 0.00002
NM_024996.7(GFM1):c.100C>T (p.Arg34Ter) rs766234016 0.00001
NM_024996.7(GFM1):c.1090C>T (p.Arg364Ter) rs775919783 0.00001
NM_024996.7(GFM1):c.1096_1099del (p.Gly366fs) rs1359346386 0.00001
NM_024996.7(GFM1):c.139C>T (p.Arg47Ter) rs119470019 0.00001
NM_024996.7(GFM1):c.1596del (p.Val533fs) rs761095873 0.00001
NM_024996.7(GFM1):c.185T>G (p.Leu62Ter) rs774252647 0.00001
NM_024996.7(GFM1):c.1878del (p.Phe626fs) rs1225913995 0.00001
NM_024996.7(GFM1):c.1882C>T (p.Arg628Ter) rs889180452 0.00001
NM_024996.7(GFM1):c.2008C>T (p.Arg670Ter) rs1402362655 0.00001
NM_024996.7(GFM1):c.2064del (p.Leu687_Tyr688insTer) rs1726209700 0.00001
NM_024996.7(GFM1):c.401_404dup (p.Arg136fs) rs1174797887 0.00001
NM_024996.7(GFM1):c.424del (p.Val142fs) rs886058120 0.00001
NM_024996.7(GFM1):c.688G>A (p.Gly230Ser) rs774456344 0.00001
NM_024996.7(GFM1):c.691C>T (p.Gln231Ter) rs1222939065 0.00001
NM_024996.7(GFM1):c.69G>A (p.Trp23Ter) rs763344414 0.00001
NM_024996.7(GFM1):c.700C>T (p.Arg234Ter) rs863224032 0.00001
NM_024996.7(GFM1):c.748C>T (p.Arg250Trp) rs139430866 0.00001
NM_024996.7(GFM1):c.89_99del (p.Trp30fs) rs763423294 0.00001
NC_000003.11:g.(?_158362424)_(158370055_?)del
NC_000003.11:g.(?_158362424)_(158384195_?)del
NC_000003.11:g.(?_158380407)_(158384185_?)del
NC_000003.11:g.(?_158399774)_(158402467_?)del
NC_000003.11:g.(?_158407942)_(158409266_?)del
NC_000003.12:g.158684526del rs2108102433
NM_024996.7(GFM1):c.1015dup (p.Thr339fs) rs2108023364
NM_024996.7(GFM1):c.1026_1027insCC (p.Met343fs) rs2473971757
NM_024996.7(GFM1):c.1126G>T (p.Gly376Ter) rs2473985654
NM_024996.7(GFM1):c.114_115del (p.Val40fs) rs766878293
NM_024996.7(GFM1):c.1167_1168insTT (p.Arg390fs) rs2108035416
NM_024996.7(GFM1):c.1172del (p.Lys391fs) rs1263604546
NM_024996.7(GFM1):c.1186C>T (p.Gln396Ter) rs1332636394
NM_024996.7(GFM1):c.1217del (p.Met406fs) rs2108035662
NM_024996.7(GFM1):c.1239T>A (p.Tyr413Ter) rs2473992572
NM_024996.7(GFM1):c.1297_1300del (p.Asp433fs) rs866604517
NM_024996.7(GFM1):c.1346del (p.Pro449fs) rs2108044392
NM_024996.7(GFM1):c.136dup (p.Ile46fs) rs1721717504
NM_024996.7(GFM1):c.1393A>T (p.Lys465Ter) rs1317528532
NM_024996.7(GFM1):c.1399dup (p.Ser467fs) rs1485460114
NM_024996.7(GFM1):c.1404del (p.Gly469fs) rs779877297
NM_024996.7(GFM1):c.1406del (p.Gly469fs) rs2474006870
NM_024996.7(GFM1):c.1424del (p.Arg475fs) rs1723572750
NM_024996.7(GFM1):c.1452dup (p.Asp485Ter) rs2474007179
NM_024996.7(GFM1):c.1466_1467del (p.Lys489fs) rs746778765
NM_024996.7(GFM1):c.1470_1471del (p.Glu490fs) rs1437329709
NM_024996.7(GFM1):c.1474_1480del (p.Val492fs) rs2474007358
NM_024996.7(GFM1):c.1525G>T (p.Glu509Ter) rs2474011247
NM_024996.7(GFM1):c.1532_1533del (p.Glu511fs) rs768112611
NM_024996.7(GFM1):c.1536T>A (p.Tyr512Ter) rs2108053298
NM_024996.7(GFM1):c.1589del (p.Thr530fs) rs2474011745
NM_024996.7(GFM1):c.1595_1596del (p.Pro532fs) rs2108053490
NM_024996.7(GFM1):c.1623_1624insG (p.Gln542fs) rs1725424733
NM_024996.7(GFM1):c.1632dup (p.Gly545fs) rs2473036507
NM_024996.7(GFM1):c.1634del (p.Gly545fs) rs2473036525
NM_024996.7(GFM1):c.1642C>T (p.Gln548Ter) rs1214047183
NM_024996.7(GFM1):c.166_169dup (p.Ser57Ter) rs752037355
NM_024996.7(GFM1):c.1831dup (p.Leu611fs) rs1281034886
NM_024996.7(GFM1):c.1834C>T (p.Gln612Ter) rs2108102670
NM_024996.7(GFM1):c.1874_1875del (p.Ser625fs) rs1725679096
NM_024996.7(GFM1):c.193C>T (p.Arg65Ter) rs62286651
NM_024996.7(GFM1):c.2068del (p.Asp690fs)
NM_024996.7(GFM1):c.247_248del (p.Asp83fs) rs1721780124
NM_024996.7(GFM1):c.273del (p.Met92fs) rs863224033
NM_024996.7(GFM1):c.291_292del (p.Gly99fs) rs752400894
NM_024996.7(GFM1):c.295G>T (p.Gly99Ter) rs2473938187
NM_024996.7(GFM1):c.303dup (p.Ile102fs) rs2473938268
NM_024996.7(GFM1):c.307C>T (p.Gln103Ter) rs756718556
NM_024996.7(GFM1):c.324C>A (p.Tyr108Ter) rs1391874523
NM_024996.7(GFM1):c.332G>A (p.Trp111Ter) rs771055207
NM_024996.7(GFM1):c.3G>A (p.Met1Ile) rs863224030
NM_024996.7(GFM1):c.486dup (p.Lys163fs) rs1181841660
NM_024996.7(GFM1):c.521dup (p.Asn174fs) rs1576723006
NM_024996.7(GFM1):c.532C>T (p.Arg178Ter) rs1721865059
NM_024996.7(GFM1):c.539del (p.Gly180fs) rs1362847020
NM_024996.7(GFM1):c.54del (p.Ala19fs) rs765266988
NM_024996.7(GFM1):c.604C>T (p.Gln202Ter) rs2473948919
NM_024996.7(GFM1):c.612del (p.Met205fs) rs2108009467
NM_024996.7(GFM1):c.649del (p.Ile218fs) rs2108009622
NM_024996.7(GFM1):c.690_693del rs778902849
NM_024996.7(GFM1):c.725T>G (p.Leu242Ter) rs2473960497
NM_024996.7(GFM1):c.735_747delinsTTAATTAATTAG (p.Ala246_His249delinsTer) rs1722345825
NM_024996.7(GFM1):c.769del (p.Val257fs) rs2108017010
NM_024996.7(GFM1):c.787C>T (p.Gln263Ter) rs2473961042
NM_024996.7(GFM1):c.796G>T (p.Glu266Ter) rs2473961108
NM_024996.7(GFM1):c.817dup (p.Ile273fs) rs1722355988
NM_024996.7(GFM1):c.829dup (p.Ser277fs) rs771865940
NM_024996.7(GFM1):c.857del (p.Ala286fs) rs2473965987
NM_024996.7(GFM1):c.890del (p.Leu297fs) rs775228051
NM_024996.7(GFM1):c.929del (p.Leu309_Leu310insTer)
NM_024996.7(GFM1):c.974del (p.Asn325fs) rs1434843098

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.