ClinVar Miner

List of variants reported as uncertain significance for Juvenile myoclonic epilepsy by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 97
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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_000726.5(CACNB4):c.*624A>T rs755272601 0.00332
NM_000726.5(CACNB4):c.*5022A>G rs548177540 0.00298
NM_018100.4(EFHC1):c.887G>A (p.Arg296His) rs115205076 0.00261
NM_018100.4(EFHC1):c.*1876T>G rs148070071 0.00194
NM_018100.4(EFHC1):c.*99T>A rs151292895 0.00110
NM_000726.5(CACNB4):c.*737C>T rs558590558 0.00096
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.*592T>C rs779110885 0.00039
NM_018100.4(EFHC1):c.*1576C>A rs547537212 0.00029
NM_000726.5(CACNB4):c.*1952C>A rs764877003 0.00026
NM_018100.4(EFHC1):c.1587G>A (p.Ala529=) rs377227885 0.00021
NM_000726.5(CACNB4):c.*795T>G rs766545084 0.00019
NM_001127644.2(GABRA1):c.-4C>T rs375475234 0.00014
NM_018100.4(EFHC1):c.*2211C>T rs753392817 0.00012
NM_000726.5(CACNB4):c.*1520del rs374745796 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_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.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_000726.5(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.*2542G>A rs886054957
NM_000726.5(CACNB4):c.*442_*443del rs886054966
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.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_018100.4(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.1197T>C (p.Ala399=) rs886061630
NM_018100.4(EFHC1):c.666_671del (p.Lys222_Val224delinsAsn) rs886061628
NM_018100.4(EFHC1):c.800A>G (p.Tyr267Cys) rs886061629

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.