ClinVar Miner

List of variants in gene EFHC1 reported as uncertain significance for adolescent-onset epilepsy syndrome

Included ClinVar conditions (88):
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Gene type:
ClinVar version:
Total variants: 171
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HGVS dbSNP
NC_000006.12:g.(?_52423789)_(52492432_?)del
NC_000006.12:g.(?_52479017)_(52492432_?)del
NM_018100.3(EFHC1):c.-162C>T rs41273738
NM_018100.4(EFHC1):c.*1024C>T rs372975445
NM_018100.4(EFHC1):c.*1025_*1026AT[12] rs59794069
NM_018100.4(EFHC1):c.*1025_*1026AT[13] rs59794069
NM_018100.4(EFHC1):c.*1025_*1026AT[14] rs59794069
NM_018100.4(EFHC1):c.*1025_*1026AT[19] rs59794069
NM_018100.4(EFHC1):c.*1025_*1026AT[20] rs59794069
NM_018100.4(EFHC1):c.*1025_*1026AT[21] rs59794069
NM_018100.4(EFHC1):c.*1045delinsATATATATATATA rs886061633
NM_018100.4(EFHC1):c.*1045delinsATATATATATATATATATATATATATATATATA rs886061633
NM_018100.4(EFHC1):c.*1064_*1065AC[4] rs886061634
NM_018100.4(EFHC1):c.*140C>T rs78906153
NM_018100.4(EFHC1):c.*1481_*1482TC[1] rs886061636
NM_018100.4(EFHC1):c.*1576C>A rs547537212
NM_018100.4(EFHC1):c.*1813dup rs201262358
NM_018100.4(EFHC1):c.*1876T>G rs148070071
NM_018100.4(EFHC1):c.*2023T>C rs886061638
NM_018100.4(EFHC1):c.*2211C>T rs753392817
NM_018100.4(EFHC1):c.*226A>G rs562067977
NM_018100.4(EFHC1):c.*2430C>T rs749445189
NM_018100.4(EFHC1):c.*2913G>C rs886061639
NM_018100.4(EFHC1):c.*527C>T rs540732861
NM_018100.4(EFHC1):c.*549_*550TA[3] rs886061631
NM_018100.4(EFHC1):c.*66C>G rs574373324
NM_018100.4(EFHC1):c.*681G>A rs560182875
NM_018100.4(EFHC1):c.*896C>T rs112311115
NM_018100.4(EFHC1):c.*957C>T rs761411516
NM_018100.4(EFHC1):c.*99T>A rs151292895
NM_018100.4(EFHC1):c.1016G>A (p.Gly339Glu)
NM_018100.4(EFHC1):c.1054C>T (p.Arg352Ter)
NM_018100.4(EFHC1):c.1096C>T (p.Arg366Cys)
NM_018100.4(EFHC1):c.110A>G (p.Tyr37Cys)
NM_018100.4(EFHC1):c.1114C>T (p.Arg372Trp) rs371151471
NM_018100.4(EFHC1):c.1144C>T (p.Pro382Ser) rs566874147
NM_018100.4(EFHC1):c.1147C>T (p.Pro383Ser) rs546262142
NM_018100.4(EFHC1):c.1151A>G (p.Tyr384Cys)
NM_018100.4(EFHC1):c.1171del (p.Glu391fs) rs1218368055
NM_018100.4(EFHC1):c.1180G>A (p.Ala394Thr) rs1562458726
NM_018100.4(EFHC1):c.1194T>C (p.Phe398=) rs201946033
NM_018100.4(EFHC1):c.1197T>C (p.Ala399=) rs886061630
NM_018100.4(EFHC1):c.1221dup (p.Asp408fs) rs754483740
NM_018100.4(EFHC1):c.1223A>T (p.Asp408Val)
NM_018100.4(EFHC1):c.125G>A (p.Arg42His) rs773598517
NM_018100.4(EFHC1):c.125G>C (p.Arg42Pro)
NM_018100.4(EFHC1):c.1265A>T (p.Tyr422Phe) rs750259384
NM_018100.4(EFHC1):c.1270G>A (p.Ala424Thr)
NM_018100.4(EFHC1):c.1274T>G (p.Val425Gly) rs529767823
NM_018100.4(EFHC1):c.1280A>G (p.Glu427Gly) rs756563341
NM_018100.4(EFHC1):c.1286C>T (p.Pro429Leu)
NM_018100.4(EFHC1):c.1288dup (p.Ile430fs)
NM_018100.4(EFHC1):c.1306C>T (p.Arg436Cys) rs377286138
NM_018100.4(EFHC1):c.1309A>T (p.Arg437Ter)
NM_018100.4(EFHC1):c.1310G>A (p.Arg437Lys)
NM_018100.4(EFHC1):c.1333G>A (p.Ala445Thr)
NM_018100.4(EFHC1):c.1337C>T (p.Thr446Ile) rs753032457
NM_018100.4(EFHC1):c.1355T>C (p.Phe452Ser)
NM_018100.4(EFHC1):c.1363C>T (p.Pro455Ser)
NM_018100.4(EFHC1):c.1365T>C (p.Pro455=) rs1581846971
NM_018100.4(EFHC1):c.1369C>T (p.Arg457Cys) rs373196171
NM_018100.4(EFHC1):c.1370G>T (p.Arg457Leu) rs369468811
NM_018100.4(EFHC1):c.1385T>C (p.Ile462Thr) rs200116252
NM_018100.4(EFHC1):c.1396T>G (p.Tyr466Asp) rs373042342
NM_018100.4(EFHC1):c.1409C>G (p.Thr470Ser)
NM_018100.4(EFHC1):c.1443C>G (p.Asn481Lys)
NM_018100.4(EFHC1):c.144C>T (p.Gly48=) rs372240827
NM_018100.4(EFHC1):c.1451A>G (p.Tyr484Cys) rs201261630
NM_018100.4(EFHC1):c.1459C>T (p.Pro487Ser)
NM_018100.4(EFHC1):c.145G>A (p.Gly49Arg) rs760025678
NM_018100.4(EFHC1):c.1492+1G>A rs191404037
NM_018100.4(EFHC1):c.151C>T (p.Arg51Trp) rs374661645
NM_018100.4(EFHC1):c.1546A>C (p.Met516Leu)
NM_018100.4(EFHC1):c.1547T>C (p.Met516Thr) rs372520849
NM_018100.4(EFHC1):c.1548G>A (p.Met516Ile) rs973650043
NM_018100.4(EFHC1):c.1549_1559delinsTTTTGAAATACA (p.Glu517_Ala520delinsPheTer) rs1554261668
NM_018100.4(EFHC1):c.1557C>T (p.Asn519=) rs773385237
NM_018100.4(EFHC1):c.1562C>G (p.Ala521Gly) rs766675010
NM_018100.4(EFHC1):c.1586C>A (p.Ala529Glu) rs759944784
NM_018100.4(EFHC1):c.1587G>A (p.Ala529=) rs377227885
NM_018100.4(EFHC1):c.1606C>G (p.Arg536Gly) rs779990464
NM_018100.4(EFHC1):c.1606C>T (p.Arg536Ter) rs779990464
NM_018100.4(EFHC1):c.1607G>A (p.Arg536Gln)
NM_018100.4(EFHC1):c.1607G>C (p.Arg536Pro) rs867304706
NM_018100.4(EFHC1):c.1612C>T (p.Arg538Ter) rs149998588
NM_018100.4(EFHC1):c.1622C>G (p.Pro541Arg)
NM_018100.4(EFHC1):c.1639A>G (p.Ser547Gly)
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.16G>A (p.Val6Met)
NM_018100.4(EFHC1):c.1739G>C (p.Arg580Pro) rs752701116
NM_018100.4(EFHC1):c.1765G>A (p.Glu589Lys) rs201197637
NM_018100.4(EFHC1):c.1768G>C (p.Ala590Pro) rs749376467
NM_018100.4(EFHC1):c.1776A>G (p.Gly592=) rs1581854375
NM_018100.4(EFHC1):c.1786A>G (p.Arg596Gly)
NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp) rs369503191
NM_018100.4(EFHC1):c.1835A>C (p.Asp612Ala)
NM_018100.4(EFHC1):c.187G>A (p.Asp63Asn) rs750083920
NM_018100.4(EFHC1):c.1886T>C (p.Ile629Thr)
NM_018100.4(EFHC1):c.1888A>G (p.Asn630Asp) rs747171841
NM_018100.4(EFHC1):c.1892A>G (p.Tyr631Cys) rs574948354
NM_018100.4(EFHC1):c.1895A>G (p.Tyr632Cys) rs770182350
NM_018100.4(EFHC1):c.194T>C (p.Leu65Ser)
NM_018100.4(EFHC1):c.199A>G (p.Ser67Gly) rs766220714
NM_018100.4(EFHC1):c.21T>G (p.His7Gln) rs775530837
NM_018100.4(EFHC1):c.226C>T (p.Gln76Ter)
NM_018100.4(EFHC1):c.241C>T (p.Pro81Ser) rs1562442253
NM_018100.4(EFHC1):c.248C>T (p.Ala83Val)
NM_018100.4(EFHC1):c.266A>G (p.His89Arg) rs543160745
NM_018100.4(EFHC1):c.28C>G (p.Pro10Ala)
NM_018100.4(EFHC1):c.290T>C (p.Leu97Pro) rs1451023675
NM_018100.4(EFHC1):c.305A>G (p.Tyr102Cys) rs368992606
NM_018100.4(EFHC1):c.336G>A (p.Glu112=)
NM_018100.4(EFHC1):c.344A>G (p.Tyr115Cys) rs371610025
NM_018100.4(EFHC1):c.346A>G (p.Arg116Gly) rs886061627
NM_018100.4(EFHC1):c.350T>C (p.Ile117Thr)
NM_018100.4(EFHC1):c.364_369del (p.Ile122_Tyr123del)
NM_018100.4(EFHC1):c.379G>C (p.Glu127Gln) rs1554258778
NM_018100.4(EFHC1):c.40G>A (p.Gly14Ser) rs1554257650
NM_018100.4(EFHC1):c.43A>G (p.Thr15Ala) rs750899949
NM_018100.4(EFHC1):c.452G>T (p.Arg151Leu)
NM_018100.4(EFHC1):c.457C>T (p.Arg153Trp)
NM_018100.4(EFHC1):c.476G>A (p.Arg159Gln)
NM_018100.4(EFHC1):c.484C>T (p.His162Tyr) rs112800954
NM_018100.4(EFHC1):c.526A>G (p.Ile176Val) rs369777400
NM_018100.4(EFHC1):c.530A>T (p.Tyr177Phe)
NM_018100.4(EFHC1):c.547G>A (p.Val183Ile) rs769591944
NM_018100.4(EFHC1):c.556_557TG[1] (p.Cys186_Asp187delinsTer) rs1562447137
NM_018100.4(EFHC1):c.559G>A (p.Asp187Asn) rs148615781
NM_018100.4(EFHC1):c.564A>G (p.Gln188=) rs766444850
NM_018100.4(EFHC1):c.595A>G (p.Ile199Val)
NM_018100.4(EFHC1):c.598G>C (p.Glu200Gln) rs767704811
NM_018100.4(EFHC1):c.59C>T (p.Ser20Phe) rs147882603
NM_018100.4(EFHC1):c.602T>G (p.Leu201Ter)
NM_018100.4(EFHC1):c.629A>T (p.Asp210Val) rs73740379
NM_018100.4(EFHC1):c.637A>G (p.Thr213Ala) rs201379297
NM_018100.4(EFHC1):c.637A>T (p.Thr213Ser) rs201379297
NM_018100.4(EFHC1):c.64-5T>C rs201860746
NM_018100.4(EFHC1):c.646C>T (p.Arg216Ter) rs377165334
NM_018100.4(EFHC1):c.647G>A (p.Arg216Gln) rs77682973
NM_018100.4(EFHC1):c.663dup (p.Lys222Ter)
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.68C>T (p.Thr23Ile) rs779993809
NM_018100.4(EFHC1):c.693A>C (p.Gln231His) rs375014511
NM_018100.4(EFHC1):c.702A>G (p.Gln234=)
NM_018100.4(EFHC1):c.710C>A (p.Thr237Asn) rs765821468
NM_018100.4(EFHC1):c.723+10A>G
NM_018100.4(EFHC1):c.731G>A (p.Arg244Gln) rs140476054
NM_018100.4(EFHC1):c.742A>G (p.Ile248Val)
NM_018100.4(EFHC1):c.749A>T (p.Asp250Val) rs1562453181
NM_018100.4(EFHC1):c.76C>T (p.His26Tyr)
NM_018100.4(EFHC1):c.779G>A (p.Arg260Gln) rs145754721
NM_018100.4(EFHC1):c.797A>G (p.Tyr266Cys) rs536323609
NM_018100.4(EFHC1):c.800A>G (p.Tyr267Cys) rs886061629
NM_018100.4(EFHC1):c.817G>T (p.Val273Leu) rs369926953
NM_018100.4(EFHC1):c.841C>T (p.Arg281Trp)
NM_018100.4(EFHC1):c.847G>A (p.Asp283Asn)
NM_018100.4(EFHC1):c.854G>A (p.Arg285Lys) rs17851771
NM_018100.4(EFHC1):c.879C>G (p.Asn293Lys) rs1562453330
NM_018100.4(EFHC1):c.880C>T (p.Arg294Cys) rs201543041
NM_018100.4(EFHC1):c.887G>A (p.Arg296His) rs115205076
NM_018100.4(EFHC1):c.896A>G (p.Lys299Arg) rs138973203
NM_018100.4(EFHC1):c.90G>A (p.Thr30=) rs140429638
NM_018100.4(EFHC1):c.911A>G (p.Asn304Ser) rs142107827
NM_018100.4(EFHC1):c.915A>G (p.Ala305=) rs1060503381
NM_018100.4(EFHC1):c.916A>G (p.Lys306Glu) rs201263733
NM_018100.4(EFHC1):c.946T>G (p.Ser316Ala)
NM_018100.4(EFHC1):c.952C>A (p.Gln318Lys)

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