ClinVar Miner

List of variants in gene EFHC1 reported as likely benign for juvenile absence epilepsy

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
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.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.573+5A>G rs560584332 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.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.564A>G (p.Gln188=) rs766444850 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.702A>G (p.Gln234=) rs1359654256 0.00001
NM_018100.4(EFHC1):c.723+10A>G rs754567679 0.00001
NM_018100.4(EFHC1):c.762C>T (p.Ser254=) rs375851193 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_018100.4(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.1641-6C>G rs1554262183
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.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

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