ClinVar Miner

List of variants studied for Juvenile myoclonic epilepsy; Typical absence seizures by Invitae

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Total variants: 129
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HGVS dbSNP
NC_000006.12:g.(?_52423789)_(52492432_?)del
NC_000006.12:g.(?_52479017)_(52492432_?)del
NM_018100.4(EFHC1):c.1016G>A (p.Gly339Glu)
NM_018100.4(EFHC1):c.1047A>G (p.Pro349=) rs1163603161
NM_018100.4(EFHC1):c.1054C>T (p.Arg352Ter)
NM_018100.4(EFHC1):c.1057C>T (p.Arg353Trp) rs527295360
NM_018100.4(EFHC1):c.1058G>A (p.Arg353Gln) rs377732929
NM_018100.4(EFHC1):c.1059G>A (p.Arg353=) rs200024100
NM_018100.4(EFHC1):c.1069G>A (p.Glu357Lys) rs505760
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.1155C>T (p.Asn385=) rs115913738
NM_018100.4(EFHC1):c.1223A>T (p.Asp408Val)
NM_018100.4(EFHC1):c.1224C>T (p.Asp408=) rs116134831
NM_018100.4(EFHC1):c.125G>A (p.Arg42His) rs773598517
NM_018100.4(EFHC1):c.125G>C (p.Arg42Pro)
NM_018100.4(EFHC1):c.1270G>A (p.Ala424Thr)
NM_018100.4(EFHC1):c.1274T>G (p.Val425Gly) rs529767823
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.1338C>T (p.Thr446=) rs546464826
NM_018100.4(EFHC1):c.1343T>C (p.Met448Thr) rs1266787
NM_018100.4(EFHC1):c.1355T>C (p.Phe452Ser)
NM_018100.4(EFHC1):c.1363C>T (p.Pro455Ser)
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.1409C>G (p.Thr470Ser)
NM_018100.4(EFHC1):c.1443C>G (p.Asn481Lys)
NM_018100.4(EFHC1):c.1451A>G (p.Tyr484Cys) rs201261630
NM_018100.4(EFHC1):c.1459C>T (p.Pro487Ser)
NM_018100.4(EFHC1):c.151C>T (p.Arg51Trp) rs374661645
NM_018100.4(EFHC1):c.1523C>G (p.Thr508Arg) rs200328198
NM_018100.4(EFHC1):c.1546A>C (p.Met516Leu)
NM_018100.4(EFHC1):c.1547T>C (p.Met516Thr) rs372520849
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.1584C>T (p.Leu528=) rs774640110
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>T (p.Arg536Ter) rs779990464
NM_018100.4(EFHC1):c.1607G>A (p.Arg536Gln)
NM_018100.4(EFHC1):c.160T>C (p.Phe54Leu)
NM_018100.4(EFHC1):c.1622C>G (p.Pro541Arg)
NM_018100.4(EFHC1):c.1639A>G (p.Ser547Gly)
NM_018100.4(EFHC1):c.1641-8C>A rs1222704866
NM_018100.4(EFHC1):c.1665C>T (p.Gly555=) rs369201702
NM_018100.4(EFHC1):c.1667T>C (p.Val556Ala)
NM_018100.4(EFHC1):c.1675T>C (p.Leu559=) rs145194882
NM_018100.4(EFHC1):c.16G>A (p.Val6Met)
NM_018100.4(EFHC1):c.1786A>G (p.Arg596Gly)
NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp) rs369503191
NM_018100.4(EFHC1):c.1815G>A (p.Ser605=) rs1045298708
NM_018100.4(EFHC1):c.1820A>G (p.Asn607Ser) rs115475262
NM_018100.4(EFHC1):c.1821C>T (p.Asn607=) rs777238548
NM_018100.4(EFHC1):c.1835A>C (p.Asp612Ala)
NM_018100.4(EFHC1):c.1836C>T (p.Asp612=) rs137869409
NM_018100.4(EFHC1):c.1851+8T>A
NM_018100.4(EFHC1):c.1852-6C>G rs372507832
NM_018100.4(EFHC1):c.1856T>G (p.Ile619Ser) rs142458862
NM_018100.4(EFHC1):c.1886T>C (p.Ile629Thr)
NM_018100.4(EFHC1):c.1888A>G (p.Asn630Asp) rs747171841
NM_018100.4(EFHC1):c.1893C>T (p.Tyr631=) rs35648306
NM_018100.4(EFHC1):c.194T>C (p.Leu65Ser)
NM_018100.4(EFHC1):c.210A>G (p.Pro70=) rs145367062
NM_018100.4(EFHC1):c.226C>T (p.Gln76Ter)
NM_018100.4(EFHC1):c.229C>A (p.Pro77Thr) rs149055334
NM_018100.4(EFHC1):c.22G>C (p.Gly8Arg) rs200510672
NM_018100.4(EFHC1):c.248C>T (p.Ala83Val)
NM_018100.4(EFHC1):c.249G>A (p.Ala83=) rs149627167
NM_018100.4(EFHC1):c.25T>C (p.Leu9=) rs149315015
NM_018100.4(EFHC1):c.28C>G (p.Pro10Ala)
NM_018100.4(EFHC1):c.336G>A (p.Glu112=)
NM_018100.4(EFHC1):c.344A>G (p.Tyr115Cys) rs371610025
NM_018100.4(EFHC1):c.350T>C (p.Ile117Thr)
NM_018100.4(EFHC1):c.364_369del (p.Ile122_Tyr123del)
NM_018100.4(EFHC1):c.451C>T (p.Arg151Cys) rs200375854
NM_018100.4(EFHC1):c.452G>T (p.Arg151Leu)
NM_018100.4(EFHC1):c.457C>T (p.Arg153Trp)
NM_018100.4(EFHC1):c.475C>G (p.Arg159Gly) rs3804506
NM_018100.4(EFHC1):c.476G>A (p.Arg159Gln)
NM_018100.4(EFHC1):c.484C>T (p.His162Tyr) rs112800954
NM_018100.4(EFHC1):c.530A>T (p.Tyr177Phe)
NM_018100.4(EFHC1):c.544C>T (p.Arg182Cys) rs200191497
NM_018100.4(EFHC1):c.54G>T (p.Lys18Asn) rs146467751
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.602T>G (p.Leu201Ter)
NM_018100.4(EFHC1):c.629A>T (p.Asp210Val) rs73740379
NM_018100.4(EFHC1):c.64-5T>C rs201860746
NM_018100.4(EFHC1):c.647G>A (p.Arg216Gln) rs77682973
NM_018100.4(EFHC1):c.661C>T (p.Arg221Cys) rs139197513
NM_018100.4(EFHC1):c.662G>A (p.Arg221His) rs79761183
NM_018100.4(EFHC1):c.663dup (p.Lys222Ter)
NM_018100.4(EFHC1):c.681A>G (p.Ser227=) rs772096798
NM_018100.4(EFHC1):c.682_692del (p.Asp228fs) rs775980459
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu) rs137852776
NM_018100.4(EFHC1):c.693A>C (p.Gln231His) rs375014511
NM_018100.4(EFHC1):c.702A>G (p.Gln234=)
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.76C>T (p.His26Tyr)
NM_018100.4(EFHC1):c.817G>T (p.Val273Leu) rs369926953
NM_018100.4(EFHC1):c.838G>A (p.Glu280Lys)
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.881G>A (p.Arg294His) rs1570624
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.89C>T (p.Thr30Met) rs200435907
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.916A>G (p.Lys306Glu) rs201263733
NM_018100.4(EFHC1):c.946T>G (p.Ser316Ala)
NM_018100.4(EFHC1):c.952C>A (p.Gln318Lys)
NM_018100.4(EFHC1):c.97T>C (p.Tyr33His) rs374402088

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