ClinVar Miner

List of variants studied for adolescent/adult-onset epilepsy syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 181
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HGVS dbSNP gnomAD frequency
NM_000726.5(CACNB4):c.*5385C>T rs1568673 0.93666
NM_018100.4(EFHC1):c.*881A>T rs6926242 0.90714
NM_018100.4(EFHC1):c.*121C>A rs7757370 0.87583
NM_018100.4(EFHC1):c.*1180G>A rs4455668 0.87433
NM_018100.4(EFHC1):c.*3144T>A rs3789772 0.70161
NM_000726.5(CACNB4):c.*442G>A rs7597215 0.39502
NM_018100.4(EFHC1):c.*3406T>C rs6919266 0.36710
NM_000726.5(CACNB4):c.*3804G>C rs2344734 0.33115
NM_018100.4(EFHC1):c.*2972C>G rs9367485 0.18894
NM_018100.4(EFHC1):c.573+10A>G rs9349626 0.18650
NM_018100.4(EFHC1):c.*1490C>A rs2397092 0.18321
NM_018100.4(EFHC1):c.*2419A>G rs9474228 0.17191
NM_000726.5(CACNB4):c.*1185T>C rs13410490 0.11625
NM_000726.5(CACNB4):c.*1186G>T rs72868010 0.09750
NM_018100.4(EFHC1):c.*871C>G rs78956562 0.09084
NM_018100.4(EFHC1):c.*3192G>A rs3789771 0.08613
NM_018100.4(EFHC1):c.1343T>C (p.Met448Thr) rs1266787 0.07947
NM_018100.4(EFHC1):c.1855A>C (p.Ile619Leu) rs17851770 0.06310
NM_000726.5(CACNB4):c.1239G>A (p.Leu413=) rs1805028 0.05818
NM_000726.5(CACNB4):c.762T>A (p.Ile254=) rs61736804 0.05586
NM_000726.5(CACNB4):c.*5029T>C rs16830412 0.05230
NM_000726.5(CACNB4):c.*890G>C rs78697588 0.04885
NM_018100.3(EFHC1):c.-195A>G rs2296196 0.04417
NM_018100.4(EFHC1):c.*1024C>T rs372975445 0.03953
NM_000726.5(CACNB4):c.*4771G>A rs80248494 0.03690
NM_018100.4(EFHC1):c.*2164G>A rs59722297 0.02831
NM_000726.5(CACNB4):c.*1656T>C rs62174451 0.02784
NM_000726.5(CACNB4):c.*3157T>A rs10497086 0.02768
NM_000726.5(CACNB4):c.*2885T>C rs116457978 0.01717
NM_000726.5(CACNB4):c.*2163G>A rs80306085 0.01698
NM_000726.5(CACNB4):c.*2778A>C rs114659375 0.01105
NM_000726.5(CACNB4):c.*1459T>C rs114958916 0.01102
NM_000726.5(CACNB4):c.*865G>A rs75365487 0.00988
NM_000726.5(CACNB4):c.*2837A>G rs138327808 0.00888
NM_000726.5(CACNB4):c.*528A>T rs111999910 0.00814
NM_000726.5(CACNB4):c.*5372T>C rs150406641 0.00778
NM_000726.5(CACNB4):c.*2210A>G rs114341631 0.00772
NM_000726.5(CACNB4):c.*2695G>T rs74894311 0.00768
NM_000726.5(CACNB4):c.*4773A>G rs113408437 0.00714
NM_000726.5(CACNB4):c.*1284T>G rs112989362 0.00674
NM_000726.5(CACNB4):c.1303-3T>C rs143442080 0.00617
NM_000726.5(CACNB4):c.-25G>T rs143675846 0.00516
NM_018100.3(EFHC1):c.-162C>T rs41273738 0.00472
NM_000726.5(CACNB4):c.*2391T>G rs143821304 0.00454
NM_018100.4(EFHC1):c.629A>T (p.Asp210Val) rs73740379 0.00408
NM_018100.4(EFHC1):c.*896C>T rs112311115 0.00399
NM_000726.5(CACNB4):c.*2729G>A rs144329745 0.00357
NM_000726.5(CACNB4):c.*624A>T rs755272601 0.00332
NM_000726.5(CACNB4):c.*6140G>T rs74944346 0.00321
NM_000726.5(CACNB4):c.599-15G>A rs41270209 0.00314
NM_000726.5(CACNB4):c.*5855A>C rs118093432 0.00312
NM_000726.5(CACNB4):c.*1942T>C rs139629003 0.00300
NM_000726.5(CACNB4):c.*5022A>G rs548177540 0.00298
NM_018100.4(EFHC1):c.887G>A (p.Arg296His) rs115205076 0.00261
NM_000726.5(CACNB4):c.*1909C>T rs113319414 0.00256
NM_000726.5(CACNB4):c.44C>G (p.Pro15Arg) rs200662010 0.00201
NM_018100.4(EFHC1):c.*1876T>G rs148070071 0.00194
NM_018100.4(EFHC1):c.*233T>A rs538486876 0.00193
NM_000726.5(CACNB4):c.*5622C>T rs187012852 0.00191
NM_000726.5(CACNB4):c.1413G>A (p.Arg471=) rs1805029 0.00148
NM_000726.5(CACNB4):c.*1093T>C rs142139235 0.00122
NM_000726.5(CACNB4):c.*2188T>G rs548234328 0.00122
NM_018100.4(EFHC1):c.*99T>A rs151292895 0.00110
NM_000726.5(CACNB4):c.*1814G>A rs181447432 0.00103
NM_000726.5(CACNB4):c.*737C>T rs558590558 0.00096
NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe) rs200092211 0.00091
NM_000726.5(CACNB4):c.*4969G>A rs537140595 0.00076
NM_000726.5(CACNB4):c.*1110C>A rs147608603 0.00074
NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe) rs1805031 0.00074
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_000726.5(CACNB4):c.*4976T>C rs191424720 0.00042
NM_000726.5(CACNB4):c.*5562A>G rs192309143 0.00042
NM_000726.5(CACNB4):c.*592T>C rs779110885 0.00039
NM_000726.5(CACNB4):c.*4131A>G rs373381936 0.00036
NM_018100.4(EFHC1):c.*1576C>A rs547537212 0.00029
NM_000726.5(CACNB4):c.*1952C>A rs764877003 0.00026
NM_000726.5(CACNB4):c.8C>T (p.Ser3Phe) rs542973906 0.00021
NM_018100.4(EFHC1):c.1587G>A (p.Ala529=) rs377227885 0.00021
NM_000726.5(CACNB4):c.*4570T>C rs549017506 0.00019
NM_000726.5(CACNB4):c.*4T>C rs556761275 0.00019
NM_000726.5(CACNB4):c.*795T>G rs766545084 0.00019
NM_000726.5(CACNB4):c.*1009C>T rs367723727 0.00014
NM_001127644.2(GABRA1):c.-4C>T rs375475234 0.00014
NM_000726.5(CACNB4):c.*3475A>T rs567549082 0.00012
NM_018100.4(EFHC1):c.*2211C>T rs753392817 0.00012
NM_000726.5(CACNB4):c.*1520del rs374745796 0.00011
NM_000726.5(CACNB4):c.*1910_*1911del rs372743707 0.00011
NM_000726.5(CACNB4):c.*4145T>C rs781255950 0.00011
NM_018100.4(EFHC1):c.*2430C>T rs749445189 0.00010
NM_018100.4(EFHC1):c.1370G>T (p.Arg457Leu) rs369468811 0.00010
NM_000726.5(CACNB4):c.*4919G>A rs763593694 0.00009
NM_000726.5(CACNB4):c.*5487T>C rs111700454 0.00009
NM_018100.4(EFHC1):c.779G>A (p.Arg260Gln) rs145754721 0.00008
NM_000726.5(CACNB4):c.*1785G>A rs886054961 0.00006
NM_000726.5(CACNB4):c.*1931T>C rs886054958 0.00006
NM_000726.5(CACNB4):c.*4569A>G rs778742650 0.00006
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.1812A>C (p.Glu604Asp) rs369503191 0.00006
NM_000726.5(CACNB4):c.*4081G>A rs148903851 0.00004
NM_000726.5(CACNB4):c.*5433A>G rs563567053 0.00004
NM_000726.5(CACNB4):c.*6183A>G rs185830609 0.00004
NM_018100.4(EFHC1):c.1265A>T (p.Tyr422Phe) rs750259384 0.00004
NM_000726.5(CACNB4):c.*1937T>G rs758893086 0.00003
NM_000726.5(CACNB4):c.*5122C>T rs187940787 0.00003
NM_000726.5(CACNB4):c.1278T>C (p.Tyr426=) rs376015337 0.00003
NM_018100.4(EFHC1):c.1765G>A (p.Glu589Lys) rs201197637 0.00003
NM_000726.5(CACNB4):c.*3387C>G rs886054955 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.43A>G (p.Thr15Ala) rs750899949 0.00002
NM_000726.5(CACNB4):c.*1811C>A rs886054960 0.00001
NM_000726.5(CACNB4):c.*2924T>C rs886054956 0.00001
NM_000726.5(CACNB4):c.*3688G>A rs886054954 0.00001
NM_000726.5(CACNB4):c.177G>A (p.Pro59=) rs552093496 0.00001
NM_000726.5(CACNB4):c.521+9C>T rs747291810 0.00001
NM_000726.5(CACNB4):c.64-4C>T rs886054970 0.00001
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.1194T>C (p.Phe398=) rs201946033 0.00001
NM_018100.4(EFHC1):c.144C>T (p.Gly48=) rs372240827 0.00001
NM_018100.4(EFHC1):c.1612C>T (p.Arg538Ter) rs149998588 0.00001
NM_018100.4(EFHC1):c.1895A>G (p.Tyr632Cys) rs770182350 0.00001
NM_018100.4(EFHC1):c.346A>G (p.Arg116Gly) rs886061627 0.00001
NM_018100.4(EFHC1):c.559G>A (p.Asp187Asn) rs148615781 0.00001
NM_000726.4(CACNB4):c.-57G>T rs886054971
NM_000726.4(CACNB4):c.-70G>A rs183873853
NM_000726.5(CACNB4):c.*1501del rs886054963
NM_000726.5(CACNB4):c.*1501dup rs886054963
NM_000726.5(CACNB4):c.*151del rs79470866
NM_000726.5(CACNB4):c.*151dup rs79470866
NM_000726.5(CACNB4):c.*1635T>C rs886054962
NM_000726.5(CACNB4):c.*1826A>G rs886054959
NM_000726.5(CACNB4):c.*2188del rs75297236
NM_000726.5(CACNB4):c.*2542G>A rs886054957
NM_000726.5(CACNB4):c.*3668T>C rs543493236
NM_000726.5(CACNB4):c.*442_*443del rs886054966
NM_000726.5(CACNB4):c.*443A>G rs538829019
NM_000726.5(CACNB4):c.*454del rs879114509
NM_000726.5(CACNB4):c.*454dup rs879114509
NM_000726.5(CACNB4):c.*4845T>C rs886054953
NM_000726.5(CACNB4):c.*5418T>C rs886054952
NM_000726.5(CACNB4):c.*5863T>G rs886054951
NM_000726.5(CACNB4):c.*5977G>T rs886054950
NM_000726.5(CACNB4):c.*5995dup rs886054949
NM_000726.5(CACNB4):c.*624del rs11291336
NM_000726.5(CACNB4):c.*787del rs560958457
NM_000726.5(CACNB4):c.187G>C (p.Asp63His) rs886054969
NM_000726.5(CACNB4):c.337G>T (p.Val113Phe) rs886054968
NM_000726.5(CACNB4):c.642T>C (p.Asp214=) rs886054967
NM_000806.5(GABRA1):c.-438del rs112361424
NM_000806.5(GABRA1):c.-442dup rs201310567
NM_001127644.2(GABRA1):c.*304del rs547262225
NM_001127644.2(GABRA1):c.-117GACTCG[3] rs527890421
NM_001127644.2(GABRA1):c.1290A>G (p.Leu430=) rs886060361
NM_018100.3(EFHC1):c.-148_-147GC[1] rs796720054
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.*1025AT[9] 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.*1325dup rs35994917
NM_018100.4(EFHC1):c.*140C>T rs78906153
NM_018100.4(EFHC1):c.*1481TC[1] rs886061636
NM_018100.4(EFHC1):c.*1749_*1750insAC rs58779695
NM_018100.4(EFHC1):c.*1813dup rs201262358
NM_018100.4(EFHC1):c.*2913G>C rs886061639
NM_018100.4(EFHC1):c.*392A>C rs9463792
NM_018100.4(EFHC1):c.*549TA[3] rs886061631
NM_018100.4(EFHC1):c.*66C>G rs574373324
NM_018100.4(EFHC1):c.1197T>C (p.Ala399=) rs886061630
NM_018100.4(EFHC1):c.475C>T (p.Arg159Trp) rs3804506
NM_018100.4(EFHC1):c.666_671del (p.Lys222_Val224delinsAsn) rs886061628
NM_018100.4(EFHC1):c.800A>G (p.Tyr267Cys) rs886061629

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