ClinVar Miner

List of variants in gene EFHC1 reported as uncertain significance for epilepsy

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 239
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HGVS dbSNP gnomAD frequency
NM_018100.4(EFHC1):c.545G>A (p.Arg182His) rs3804505 0.05453
NM_018100.4(EFHC1):c.*1024C>T rs372975445 0.03953
NM_018100.3(EFHC1):c.-162C>T rs41273738 0.00472
NM_018100.4(EFHC1):c.629A>T (p.Asp210Val) rs73740379 0.00408
NM_018100.4(EFHC1):c.*896C>T rs112311115 0.00399
NM_018100.4(EFHC1):c.887G>A (p.Arg296His) rs115205076 0.00261
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu) rs137852776 0.00242
NM_018100.4(EFHC1):c.*1876T>G rs148070071 0.00194
NM_018100.4(EFHC1):c.*99T>A rs151292895 0.00110
NM_018100.4(EFHC1):c.64-5T>C rs201860746 0.00063
NM_018100.4(EFHC1):c.90G>A (p.Thr30=) rs140429638 0.00059
NM_018100.4(EFHC1):c.*527C>T rs540732861 0.00050
NM_018100.4(EFHC1):c.*1576C>A rs547537212 0.00029
NM_018100.4(EFHC1):c.1587G>A (p.Ala529=) rs377227885 0.00021
NM_018100.4(EFHC1):c.550G>T (p.Val184Phe) rs558446131 0.00021
NM_018100.4(EFHC1):c.*681G>A rs560182875 0.00019
NM_018100.4(EFHC1):c.911A>G (p.Asn304Ser) rs142107827 0.00019
NM_018100.4(EFHC1):c.1369C>T (p.Arg457Cys) rs373196171 0.00015
NM_018100.4(EFHC1):c.1057C>T (p.Arg353Trp) rs527295360 0.00013
NM_018100.4(EFHC1):c.*2211C>T rs753392817 0.00012
NM_018100.4(EFHC1):c.817G>T (p.Val273Leu) rs369926953 0.00012
NM_018100.4(EFHC1):c.1370G>T (p.Arg457Leu) rs369468811 0.00010
NM_018100.4(EFHC1):c.484C>T (p.His162Tyr) rs112800954 0.00010
NM_018100.4(EFHC1):c.731G>A (p.Arg244Gln) rs140476054 0.00010
NM_018100.4(EFHC1):c.1385T>C (p.Ile462Thr) rs200116252 0.00009
NM_018100.4(EFHC1):c.1768G>C (p.Ala590Pro) rs749376467 0.00009
NM_018100.4(EFHC1):c.574G>A (p.Val192Ile) rs781665913 0.00009
NM_018100.4(EFHC1):c.*2430C>T rs749445189 0.00008
NM_018100.4(EFHC1):c.1058G>A (p.Arg353Gln) rs377732929 0.00008
NM_018100.4(EFHC1):c.1892A>G (p.Tyr631Cys) rs574948354 0.00008
NM_018100.4(EFHC1):c.266A>G (p.His89Arg) rs543160745 0.00008
NM_018100.4(EFHC1):c.779G>A (p.Arg260Gln) rs145754721 0.00008
NM_018100.4(EFHC1):c.89C>T (p.Thr30Met) rs200435907 0.00008
NM_018100.4(EFHC1):c.344A>G (p.Tyr115Cys) rs371610025 0.00007
NM_018100.4(EFHC1):c.*957C>T rs761411516 0.00006
NM_018100.4(EFHC1):c.1223A>T (p.Asp408Val) rs773810917 0.00006
NM_018100.4(EFHC1):c.1306C>T (p.Arg436Cys) rs377286138 0.00006
NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp) rs369503191 0.00006
NM_018100.4(EFHC1):c.1A>G (p.Met1Val) rs201520866 0.00006
NM_018100.4(EFHC1):c.350T>C (p.Ile117Thr) rs201616140 0.00006
NM_018100.4(EFHC1):c.457C>T (p.Arg153Trp) rs373625101 0.00006
NM_018100.4(EFHC1):c.742A>G (p.Ile248Val) rs780571007 0.00006
NM_018100.4(EFHC1):c.1274T>G (p.Val425Gly) rs529767823 0.00005
NM_018100.4(EFHC1):c.1886T>C (p.Ile629Thr) rs199604518 0.00005
NM_018100.4(EFHC1):c.628G>A (p.Asp210Asn) rs137852777 0.00005
NM_018100.4(EFHC1):c.1261C>T (p.Arg421Cys) rs144389178 0.00004
NM_018100.4(EFHC1):c.1265A>T (p.Tyr422Phe) rs750259384 0.00004
NM_018100.4(EFHC1):c.1333G>A (p.Ala445Thr) rs770847993 0.00004
NM_018100.4(EFHC1):c.1459C>T (p.Pro487Ser) rs775601315 0.00004
NM_018100.4(EFHC1):c.151C>T (p.Arg51Trp) rs374661645 0.00004
NM_018100.4(EFHC1):c.263C>T (p.Ala88Val) rs145102896 0.00004
NM_018100.4(EFHC1):c.526A>G (p.Ile176Val) rs369777400 0.00004
NM_018100.4(EFHC1):c.646C>T (p.Arg216Ter) rs377165334 0.00004
NM_018100.4(EFHC1):c.647G>A (p.Arg216Gln) rs77682973 0.00004
NM_018100.4(EFHC1):c.1016G>A (p.Gly339Glu) rs779882152 0.00003
NM_018100.4(EFHC1):c.1114C>T (p.Arg372Trp) rs371151471 0.00003
NM_018100.4(EFHC1):c.1225G>A (p.Val409Ile) rs766874585 0.00003
NM_018100.4(EFHC1):c.125G>C (p.Arg42Pro) rs773598517 0.00003
NM_018100.4(EFHC1):c.1606C>G (p.Arg536Gly) rs779990464 0.00003
NM_018100.4(EFHC1):c.1639A>G (p.Ser547Gly) rs759767484 0.00003
NM_018100.4(EFHC1):c.1765G>A (p.Glu589Lys) rs201197637 0.00003
NM_018100.4(EFHC1):c.286-1G>A rs1351442830 0.00003
NM_018100.4(EFHC1):c.352C>T (p.Arg118Cys) rs764096785 0.00003
NM_018100.4(EFHC1):c.778C>T (p.Arg260Trp) rs1164027334 0.00003
NM_018100.4(EFHC1):c.880C>T (p.Arg294Cys) rs201543041 0.00003
NM_018100.4(EFHC1):c.896A>G (p.Lys299Arg) rs138973203 0.00003
NM_018100.4(EFHC1):c.1096C>T (p.Arg366Cys) rs573582894 0.00002
NM_018100.4(EFHC1):c.1147C>T (p.Pro383Ser) rs546262142 0.00002
NM_018100.4(EFHC1):c.1151A>G (p.Tyr384Cys) rs777659552 0.00002
NM_018100.4(EFHC1):c.1280A>G (p.Glu427Gly) rs756563341 0.00002
NM_018100.4(EFHC1):c.1309A>T (p.Arg437Ter) rs776277918 0.00002
NM_018100.4(EFHC1):c.1310G>A (p.Arg437Lys) rs761440315 0.00002
NM_018100.4(EFHC1):c.1451A>G (p.Tyr484Cys) rs201261630 0.00002
NM_018100.4(EFHC1):c.1557C>T (p.Asn519=) rs773385237 0.00002
NM_018100.4(EFHC1):c.16G>A (p.Val6Met) rs772150303 0.00002
NM_018100.4(EFHC1):c.1814C>T (p.Ser605Leu) rs373267174 0.00002
NM_018100.4(EFHC1):c.1888A>G (p.Asn630Asp) rs747171841 0.00002
NM_018100.4(EFHC1):c.305A>G (p.Tyr102Cys) rs368992606 0.00002
NM_018100.4(EFHC1):c.43A>G (p.Thr15Ala) rs750899949 0.00002
NM_018100.4(EFHC1):c.458G>A (p.Arg153Gln) rs745600475 0.00002
NM_018100.4(EFHC1):c.569C>T (p.Thr190Ile) rs1430629936 0.00002
NM_018100.4(EFHC1):c.674C>G (p.Thr225Ser) rs267601073 0.00002
NM_018100.4(EFHC1):c.730C>T (p.Arg244Ter) rs571448222 0.00002
NM_018100.4(EFHC1):c.76C>T (p.His26Tyr) rs375322518 0.00002
NM_018100.4(EFHC1):c.*2023T>C rs886061638 0.00001
NM_018100.4(EFHC1):c.*226A>G rs562067977 0.00001
NM_018100.4(EFHC1):c.1054C>T (p.Arg352Ter) rs201118016 0.00001
NM_018100.4(EFHC1):c.1055G>A (p.Arg352Gln) rs769745156 0.00001
NM_018100.4(EFHC1):c.1098del (p.Ile367fs) rs1181131881 0.00001
NM_018100.4(EFHC1):c.110A>G (p.Tyr37Cys) rs988250483 0.00001
NM_018100.4(EFHC1):c.1110C>T (p.Ser370=) rs757987501 0.00001
NM_018100.4(EFHC1):c.1115G>A (p.Arg372Gln) rs535905126 0.00001
NM_018100.4(EFHC1):c.1182del (p.Gln395fs) rs753549012 0.00001
NM_018100.4(EFHC1):c.1194T>C (p.Phe398=) rs201946033 0.00001
NM_018100.4(EFHC1):c.124C>T (p.Arg42Cys) rs748229072 0.00001
NM_018100.4(EFHC1):c.125G>A (p.Arg42His) rs773598517 0.00001
NM_018100.4(EFHC1):c.1288dup (p.Ile430fs) rs752642262 0.00001
NM_018100.4(EFHC1):c.1337C>T (p.Thr446Ile) rs753032457 0.00001
NM_018100.4(EFHC1):c.1373A>G (p.Asn458Ser) rs1562462191 0.00001
NM_018100.4(EFHC1):c.1396T>G (p.Tyr466Asp) rs373042342 0.00001
NM_018100.4(EFHC1):c.1409C>G (p.Thr470Ser) rs201129694 0.00001
NM_018100.4(EFHC1):c.1443C>G (p.Asn481Lys) rs186911667 0.00001
NM_018100.4(EFHC1):c.144C>T (p.Gly48=) rs372240827 0.00001
NM_018100.4(EFHC1):c.1492+1G>A rs191404037 0.00001
NM_018100.4(EFHC1):c.1547T>C (p.Met516Thr) rs372520849 0.00001
NM_018100.4(EFHC1):c.1558G>A (p.Ala520Thr) rs763313820 0.00001
NM_018100.4(EFHC1):c.1565A>G (p.Gln522Arg) rs752066434 0.00001
NM_018100.4(EFHC1):c.1586C>A (p.Ala529Glu) rs759944784 0.00001
NM_018100.4(EFHC1):c.1612C>T (p.Arg538Ter) rs149998588 0.00001
NM_018100.4(EFHC1):c.1640+19G>C rs1303813611 0.00001
NM_018100.4(EFHC1):c.1834G>C (p.Asp612His) rs1331948538 0.00001
NM_018100.4(EFHC1):c.1835A>C (p.Asp612Ala) rs765750690 0.00001
NM_018100.4(EFHC1):c.187G>A (p.Asp63Asn) rs750083920 0.00001
NM_018100.4(EFHC1):c.1895A>G (p.Tyr632Cys) rs770182350 0.00001
NM_018100.4(EFHC1):c.199A>G (p.Ser67Gly) rs766220714 0.00001
NM_018100.4(EFHC1):c.248C>T (p.Ala83Val) rs557599173 0.00001
NM_018100.4(EFHC1):c.290T>C (p.Leu97Pro) rs1451023675 0.00001
NM_018100.4(EFHC1):c.341A>G (p.Gln114Arg) rs759050400 0.00001
NM_018100.4(EFHC1):c.346A>G (p.Arg116Gly) rs886061627 0.00001
NM_018100.4(EFHC1):c.476G>A (p.Arg159Gln) rs1277516532 0.00001
NM_018100.4(EFHC1):c.547G>A (p.Val183Ile) rs769591944 0.00001
NM_018100.4(EFHC1):c.559G>A (p.Asp187Asn) rs148615781 0.00001
NM_018100.4(EFHC1):c.59C>T (p.Ser20Phe) rs147882603 0.00001
NM_018100.4(EFHC1):c.637A>T (p.Thr213Ser) rs201379297 0.00001
NM_018100.4(EFHC1):c.663dup (p.Lys222Ter) rs776734177 0.00001
NM_018100.4(EFHC1):c.66A>G (p.Lys22=) rs1286302392 0.00001
NM_018100.4(EFHC1):c.68C>T (p.Thr23Ile) rs779993809 0.00001
NM_018100.4(EFHC1):c.693A>C (p.Gln231His) rs375014511 0.00001
NM_018100.4(EFHC1):c.723G>A (p.Gln241=) rs750912328 0.00001
NM_018100.4(EFHC1):c.761G>A (p.Ser254Asn) rs144739917 0.00001
NM_018100.4(EFHC1):c.797A>G (p.Tyr266Cys) rs536323609 0.00001
NM_018100.4(EFHC1):c.815C>T (p.Thr272Met) rs143655397 0.00001
NM_018100.4(EFHC1):c.827G>A (p.Arg276Gln) rs758695181 0.00001
NM_018100.4(EFHC1):c.841C>T (p.Arg281Trp) rs1172185919 0.00001
NM_018100.4(EFHC1):c.854G>A (p.Arg285Lys) rs17851771 0.00001
NM_018100.4(EFHC1):c.886C>T (p.Arg296Cys) rs199814370 0.00001
NM_018100.4(EFHC1):c.916A>G (p.Lys306Glu) rs201263733 0.00001
NM_018100.4(EFHC1):c.946T>G (p.Ser316Ala) rs144708524 0.00001
NM_018100.4(EFHC1):c.952C>A (p.Gln318Lys) rs1452409120 0.00001
NC_000006.11:g.(?_52329683)_(52334281_?)del
NC_000006.12:g.(?_52423789)_(52492432_?)del
NC_000006.12:g.(?_52479017)_(52492432_?)del
NM_018100.3(EFHC1):c.[229C>A;662G>A]
NM_018100.4(EFHC1):c.*1025AT[12] rs59794069
NM_018100.4(EFHC1):c.*1025AT[13] rs59794069
NM_018100.4(EFHC1):c.*1025AT[14] rs59794069
NM_018100.4(EFHC1):c.*1025AT[19] rs59794069
NM_018100.4(EFHC1):c.*1025AT[20] rs59794069
NM_018100.4(EFHC1):c.*1025AT[21] rs59794069
NM_018100.4(EFHC1):c.*1045delinsATATATATATATA rs886061633
NM_018100.4(EFHC1):c.*1045delinsATATATATATATATATATATATATATATATATA rs886061633
NM_018100.4(EFHC1):c.*1064AC[4] rs886061634
NM_018100.4(EFHC1):c.*140C>T rs78906153
NM_018100.4(EFHC1):c.*1481TC[1] rs886061636
NM_018100.4(EFHC1):c.*1813dup rs201262358
NM_018100.4(EFHC1):c.*2913G>C rs886061639
NM_018100.4(EFHC1):c.*549TA[3] rs886061631
NM_018100.4(EFHC1):c.*66C>G rs574373324
NM_018100.4(EFHC1):c.1004T>G (p.Leu335Arg) rs1231287887
NM_018100.4(EFHC1):c.1061A>G (p.Tyr354Cys) rs533695444
NM_018100.4(EFHC1):c.1088A>G (p.Asp363Gly) rs1765271296
NM_018100.4(EFHC1):c.1091_1092insGGTATTACCTGATTTGGTAATTTGGTAATTACTGATTTGGTAATTTGGAATT (p.Leu364_Pro365insValLeuProAspLeuValIleTrpTer) rs1765271672
NM_018100.4(EFHC1):c.1117G>T (p.Glu373Ter) rs1765273374
NM_018100.4(EFHC1):c.1144C>T (p.Pro382Ser) rs566874147
NM_018100.4(EFHC1):c.1171del (p.Glu391fs) rs1218368055
NM_018100.4(EFHC1):c.1180G>A (p.Ala394Thr) rs1562458726
NM_018100.4(EFHC1):c.1197T>C (p.Ala399=) rs886061630
NM_018100.4(EFHC1):c.1221dup (p.Asp408fs) rs754483740
NM_018100.4(EFHC1):c.1228A>G (p.Ile410Val) rs1765386430
NM_018100.4(EFHC1):c.1270G>A (p.Ala424Thr) rs796052418
NM_018100.4(EFHC1):c.1286C>T (p.Pro429Leu) rs1765607722
NM_018100.4(EFHC1):c.1300A>G (p.Lys434Glu) rs771316611
NM_018100.4(EFHC1):c.1309A>G (p.Arg437Gly) rs776277918
NM_018100.4(EFHC1):c.134T>C (p.Val45Ala) rs1764249661
NM_018100.4(EFHC1):c.1355T>C (p.Phe452Ser) rs1765610593
NM_018100.4(EFHC1):c.1363C>T (p.Pro455Ser) rs1765610823
NM_018100.4(EFHC1):c.1365T>C (p.Pro455=) rs1581846971
NM_018100.4(EFHC1):c.1370G>A (p.Arg457His) rs369468811
NM_018100.4(EFHC1):c.1391G>C (p.Gly464Ala) rs2114023582
NM_018100.4(EFHC1):c.145G>A (p.Gly49Arg) rs760025678
NM_018100.4(EFHC1):c.1546A>C (p.Met516Leu) rs768684304
NM_018100.4(EFHC1):c.1548G>A (p.Met516Ile) rs973650043
NM_018100.4(EFHC1):c.1549G>T (p.Glu517Ter) rs1765630267
NM_018100.4(EFHC1):c.1549_1559delinsTTTTGAAATACA (p.Glu517_Ala520delinsPheTer) rs1554261668
NM_018100.4(EFHC1):c.1562C>G (p.Ala521Gly) rs766675010
NM_018100.4(EFHC1):c.1574C>T (p.Pro525Leu) rs1433410236
NM_018100.4(EFHC1):c.1606C>T (p.Arg536Ter) rs779990464
NM_018100.4(EFHC1):c.1607G>A (p.Arg536Gln) rs867304706
NM_018100.4(EFHC1):c.1607G>C (p.Arg536Pro) rs867304706
NM_018100.4(EFHC1):c.1618G>A (p.Ala540Thr) rs1765633745
NM_018100.4(EFHC1):c.1640+3G>T rs1581847690
NM_018100.4(EFHC1):c.165C>G (p.Asn55Lys) rs928396576
NM_018100.4(EFHC1):c.1663G>A (p.Gly555Ser) rs1581854254
NM_018100.4(EFHC1):c.1666G>A (p.Val556Met) rs772265107
NM_018100.4(EFHC1):c.1699C>T (p.Gln567Ter) rs1765867667
NM_018100.4(EFHC1):c.1739G>C (p.Arg580Pro) rs752701116
NM_018100.4(EFHC1):c.1776A>G (p.Gly592=) rs1581854375
NM_018100.4(EFHC1):c.1786A>G (p.Arg596Gly) rs1765870228
NM_018100.4(EFHC1):c.1863G>A (p.Met621Ile) rs2114039449
NM_018100.4(EFHC1):c.1879G>A (p.Gly627Ser) rs758464930
NM_018100.4(EFHC1):c.1886T>G (p.Ile629Ser) rs199604518
NM_018100.4(EFHC1):c.194T>C (p.Leu65Ser) rs757990962
NM_018100.4(EFHC1):c.206C>T (p.Ala69Val) rs1764251712
NM_018100.4(EFHC1):c.21T>A (p.His7Gln) rs775530837
NM_018100.4(EFHC1):c.21T>G (p.His7Gln) rs775530837
NM_018100.4(EFHC1):c.226C>T (p.Gln76Ter) rs11552772
NM_018100.4(EFHC1):c.227A>G (p.Gln76Arg) rs1764252445
NM_018100.4(EFHC1):c.237A>T (p.Gln79His) rs2113966975
NM_018100.4(EFHC1):c.241C>T (p.Pro81Ser) rs1562442253
NM_018100.4(EFHC1):c.277G>C (p.Asp93His) rs1764254615
NM_018100.4(EFHC1):c.28C>G (p.Pro10Ala) rs1764162488
NM_018100.4(EFHC1):c.364_369del (p.Ile122_Tyr123del) rs1764582038
NM_018100.4(EFHC1):c.371A>G (p.Tyr124Cys) rs757440981
NM_018100.4(EFHC1):c.379G>C (p.Glu127Gln) rs1554258778
NM_018100.4(EFHC1):c.388A>G (p.Ser130Gly) rs1481620865
NM_018100.4(EFHC1):c.40G>A (p.Gly14Ser) rs1554257650
NM_018100.4(EFHC1):c.452G>T (p.Arg151Leu) rs191656603
NM_018100.4(EFHC1):c.490C>T (p.His164Tyr) rs995402027
NM_018100.4(EFHC1):c.530A>T (p.Tyr177Phe) rs1764588785
NM_018100.4(EFHC1):c.558_559del (p.Cys186_Asp187delinsTer) rs1562447137
NM_018100.4(EFHC1):c.583G>C (p.Glu195Gln)
NM_018100.4(EFHC1):c.595A>G (p.Ile199Val) rs759793242
NM_018100.4(EFHC1):c.598G>C (p.Glu200Gln) rs767704811
NM_018100.4(EFHC1):c.602T>G (p.Leu201Ter) rs1764941998
NM_018100.4(EFHC1):c.637A>G (p.Thr213Ala) rs201379297
NM_018100.4(EFHC1):c.652C>T (p.Gln218Ter)
NM_018100.4(EFHC1):c.666_671del (p.Lys222_Val224delinsAsn) rs886061628
NM_018100.4(EFHC1):c.666_674delinsAAG (p.Tyr223_Thr225delinsSer) rs1554259746
NM_018100.4(EFHC1):c.682_692del (p.Asp228fs) rs775980459
NM_018100.4(EFHC1):c.710C>A (p.Thr237Asn) rs765821468
NM_018100.4(EFHC1):c.749A>T (p.Asp250Val) rs1562453181
NM_018100.4(EFHC1):c.755C>G (p.Thr252Arg) rs747450415
NM_018100.4(EFHC1):c.757G>A (p.Asp253Asn) rs137852778
NM_018100.4(EFHC1):c.800A>G (p.Tyr267Cys) rs886061629
NM_018100.4(EFHC1):c.810T>G (p.Asp270Glu) rs796052413
NM_018100.4(EFHC1):c.847G>A (p.Asp283Asn) rs1284999394
NM_018100.4(EFHC1):c.879C>G (p.Asn293Lys) rs1562453330
NM_018100.4(EFHC1):c.915A>G (p.Ala305=) rs1060503381
NM_018100.4(EFHC1):c.943A>T (p.Ile315Phe) rs1057521631

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