ClinVar Miner

List of variants in gene EFHC1 reported as uncertain significance for brain disorder

Included ClinVar conditions (1834):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 242
Download table as spreadsheet
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.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.*2430C>T rs749445189 0.00010
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.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.*681G>A rs560182875 0.00006
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.573+5A>G rs560584332 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.564A>G (p.Gln188=) rs766444850 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.723+10A>G rs754567679 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.762C>T (p.Ser254=) rs375851193 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_018100.4(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.1641-6C>G rs1554262183
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.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

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.