ClinVar Miner

List of variants in gene EFHC1 reported as likely benign for adolescent/adult-onset epilepsy syndrome

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 107
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018100.4(EFHC1):c.*881A>T rs6926242 0.90714
NM_018100.4(EFHC1):c.*3144T>A rs3789772 0.70161
NM_018100.4(EFHC1):c.*3406T>C rs6919266 0.36710
NM_018100.4(EFHC1):c.*2972C>G rs9367485 0.18894
NM_018100.4(EFHC1):c.573+10A>G rs9349626 0.18650
NM_018100.4(EFHC1):c.*1490C>A rs2397092 0.18321
NM_018100.4(EFHC1):c.*2419A>G rs9474228 0.17191
NM_018100.4(EFHC1):c.*871C>G rs78956562 0.09084
NM_018100.4(EFHC1):c.*3192G>A rs3789771 0.08613
NM_018100.4(EFHC1):c.1343T>C (p.Met448Thr) rs1266787 0.07947
NM_018100.4(EFHC1):c.1855A>C (p.Ile619Leu) rs17851770 0.06310
NM_018100.3(EFHC1):c.-195A>G rs2296196 0.04417
NM_018100.4(EFHC1):c.*2164G>A rs59722297 0.02831
NM_018100.4(EFHC1):c.1893C>T (p.Tyr631=) rs35648306 0.00805
NM_018100.4(EFHC1):c.229C>A (p.Pro77Thr) rs149055334 0.00789
NM_018100.4(EFHC1):c.*233T>A rs538486876 0.00193
NM_018100.4(EFHC1):c.90G>A (p.Thr30=) rs140429638 0.00059
NM_018100.4(EFHC1):c.97T>C (p.Tyr33His) rs374402088 0.00036
NM_018100.4(EFHC1):c.1675T>C (p.Leu559=) rs145194882 0.00024
NM_018100.4(EFHC1):c.1057C>T (p.Arg353Trp) rs527295360 0.00013
NM_018100.4(EFHC1):c.54G>T (p.Lys18Asn) rs146467751 0.00013
NM_018100.4(EFHC1):c.912T>C (p.Asn304=) rs373638109 0.00010
NM_018100.4(EFHC1):c.1385T>C (p.Ile462Thr) rs200116252 0.00009
NM_018100.4(EFHC1):c.89C>T (p.Thr30Met) rs200435907 0.00008
NM_018100.4(EFHC1):c.1279-4G>C rs372831217 0.00006
NM_018100.4(EFHC1):c.1335T>C (p.Ala445=) rs767652099 0.00006
NM_018100.4(EFHC1):c.1338C>T (p.Thr446=) rs546464826 0.00006
NM_018100.4(EFHC1):c.1584C>T (p.Leu528=) rs774640110 0.00006
NM_018100.4(EFHC1):c.1665C>T (p.Gly555=) rs369201702 0.00006
NM_018100.4(EFHC1):c.1836C>T (p.Asp612=) rs137869409 0.00006
NM_018100.4(EFHC1):c.1852-6C>G rs372507832 0.00006
NM_018100.4(EFHC1):c.1856T>G (p.Ile619Ser) rs142458862 0.00006
NM_018100.4(EFHC1):c.1523C>G (p.Thr508Arg) rs200328198 0.00005
NM_018100.4(EFHC1):c.1017G>A (p.Gly339=) rs144447906 0.00004
NM_018100.4(EFHC1):c.151C>T (p.Arg51Trp) rs374661645 0.00004
NM_018100.4(EFHC1):c.1602T>C (p.His534=) rs570700601 0.00004
NM_018100.4(EFHC1):c.1815G>A (p.Ser605=) rs1045298708 0.00004
NM_018100.4(EFHC1):c.451C>T (p.Arg151Cys) rs200375854 0.00004
NM_018100.4(EFHC1):c.105C>T (p.Asn35=) rs534406651 0.00003
NM_018100.4(EFHC1):c.1279-9C>T rs143254681 0.00003
NM_018100.4(EFHC1):c.1536T>G (p.Val512=) rs775581363 0.00003
NM_018100.4(EFHC1):c.544C>T (p.Arg182Cys) rs200191497 0.00003
NM_018100.4(EFHC1):c.1389G>A (p.Gly463=) rs772874099 0.00002
NM_018100.4(EFHC1):c.1494G>A (p.Val498=) rs1252426853 0.00002
NM_018100.4(EFHC1):c.1557C>T (p.Asn519=) rs773385237 0.00002
NM_018100.4(EFHC1):c.1629A>G (p.Pro543=) rs1422352360 0.00002
NM_018100.4(EFHC1):c.546C>T (p.Arg182=) rs377349630 0.00002
NM_018100.4(EFHC1):c.618G>A (p.Lys206=) rs1374718335 0.00002
NM_018100.4(EFHC1):c.1047A>G (p.Pro349=) rs1163603161 0.00001
NM_018100.4(EFHC1):c.1059G>A (p.Arg353=) rs200024100 0.00001
NM_018100.4(EFHC1):c.1104T>C (p.Asp368=) rs754355317 0.00001
NM_018100.4(EFHC1):c.1138-10G>A rs764297951 0.00001
NM_018100.4(EFHC1):c.1278+10A>G rs1765388049 0.00001
NM_018100.4(EFHC1):c.1279-8C>G rs751569889 0.00001
NM_018100.4(EFHC1):c.1449C>G (p.Val483=) rs999038193 0.00001
NM_018100.4(EFHC1):c.144C>T (p.Gly48=) rs372240827 0.00001
NM_018100.4(EFHC1):c.15C>T (p.Pro5=) rs1339961633 0.00001
NM_018100.4(EFHC1):c.160T>C (p.Phe54Leu) rs370815762 0.00001
NM_018100.4(EFHC1):c.1620G>A (p.Ala540=) rs773438652 0.00001
NM_018100.4(EFHC1):c.1640+19G>C rs1303813611 0.00001
NM_018100.4(EFHC1):c.1641-8C>A rs1222704866 0.00001
NM_018100.4(EFHC1):c.1667T>C (p.Val556Ala) rs543750772 0.00001
NM_018100.4(EFHC1):c.22G>C (p.Gly8Arg) rs200510672 0.00001
NM_018100.4(EFHC1):c.249G>A (p.Ala83=) rs149627167 0.00001
NM_018100.4(EFHC1):c.288A>G (p.Val96=) rs1029149593 0.00001
NM_018100.4(EFHC1):c.333T>C (p.Thr111=) rs371542229 0.00001
NM_018100.4(EFHC1):c.339A>G (p.Glu113=) rs774056218 0.00001
NM_018100.4(EFHC1):c.639T>C (p.Thr213=) rs1249877509 0.00001
NM_018100.4(EFHC1):c.681A>G (p.Ser227=) rs772096798 0.00001
NM_018100.4(EFHC1):c.69A>T (p.Thr23=) rs746911392 0.00001
NM_018100.4(EFHC1):c.702A>G (p.Gln234=) rs1359654256 0.00001
NM_018100.4(EFHC1):c.789C>T (p.Ile263=) rs148936911 0.00001
NM_018100.4(EFHC1):c.838G>A (p.Glu280Lys) rs553105915 0.00001
NM_018100.4(EFHC1):c.917-7A>C rs1266698847 0.00001
NM_018100.4(EFHC1):c.961T>C (p.Leu321=) rs751733899 0.00001
NM_018100.3(EFHC1):c.-148_-147GC[1] rs796720054
NM_018100.4(EFHC1):c.*1025AT[12] rs59794069
NM_018100.4(EFHC1):c.*1025AT[9] rs59794069
NM_018100.4(EFHC1):c.*1325dup rs35994917
NM_018100.4(EFHC1):c.*392A>C rs9463792
NM_018100.4(EFHC1):c.1138-4C>G rs777292013
NM_018100.4(EFHC1):c.1138-6C>T rs932580766
NM_018100.4(EFHC1):c.1293A>C (p.Pro431=) rs1554261597
NM_018100.4(EFHC1):c.1527C>T (p.Asp509=) rs368238981
NM_018100.4(EFHC1):c.1560T>C (p.Ala520=) rs1199507059
NM_018100.4(EFHC1):c.1563C>G (p.Ala521=) rs2114024468
NM_018100.4(EFHC1):c.1622C>G (p.Pro541Arg) rs763151746
NM_018100.4(EFHC1):c.1626T>C (p.Ala542=) rs2114024594
NM_018100.4(EFHC1):c.1746A>G (p.Ala582=) rs1396508732
NM_018100.4(EFHC1):c.1758T>C (p.Tyr586=) rs1765869162
NM_018100.4(EFHC1):c.1767A>G (p.Glu589=) rs1562466034
NM_018100.4(EFHC1):c.1827A>G (p.Pro609=) rs2114037054
NM_018100.4(EFHC1):c.1841_1851+13del rs775583843
NM_018100.4(EFHC1):c.1851+8T>A rs1765873500
NM_018100.4(EFHC1):c.1866C>T (p.Cys622=) rs1554262324
NM_018100.4(EFHC1):c.336G>A (p.Glu112=) rs1764580689
NM_018100.4(EFHC1):c.378A>G (p.Leu126=) rs2113979351
NM_018100.4(EFHC1):c.475C>T (p.Arg159Trp) rs3804506
NM_018100.4(EFHC1):c.504A>G (p.Leu168=) rs1405675667
NM_018100.4(EFHC1):c.528T>A (p.Ile176=) rs2113979621
NM_018100.4(EFHC1):c.672C>A (p.Val224=)
NM_018100.4(EFHC1):c.678A>T (p.Pro226=) rs1060504898
NM_018100.4(EFHC1):c.816G>C (p.Thr272=) rs765401978
NM_018100.4(EFHC1):c.819G>A (p.Val273=) rs1764987409
NM_018100.4(EFHC1):c.840A>G (p.Glu280=) rs1764987965
NM_018100.4(EFHC1):c.917-6T>C
NM_018100.4(EFHC1):c.917-7A>G rs1266698847

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.