ClinVar Miner

List of variants reported as uncertain significance for adolescent-onset epilepsy syndrome by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005045.4(RELN):c.10093G>A (p.Val3365Ile) rs115035120 0.00018
NM_000744.7(CHRNA4):c.1106G>A (p.Arg369Gln) rs200007766 0.00007
NM_001134407.3(GRIN2A):c.2966A>G (p.Asn989Ser) rs531782747 0.00005
NM_000748.3(CHRNB2):c.329A>C (p.Lys110Thr) rs199885651 0.00002
NM_000748.3(CHRNB2):c.1319G>A (p.Ser440Asn) rs1187024375 0.00001
NM_001134407.3(GRIN2A):c.1343A>G (p.Glu448Gly) rs1273711716 0.00001
NM_005045.4(RELN):c.1653T>A (p.Asn551Lys) rs1417611613 0.00001
NM_005045.4(RELN):c.9281A>G (p.Tyr3094Cys) rs750252271 0.00001
NM_000744.7(CHRNA4):c.479C>G (p.Ser160Cys) rs201421555
NM_001077350.3(NPRL3):c.1062C>A (p.His354Gln) rs1898813434
NM_001077350.3(NPRL3):c.118+3_118+6del rs1312109237
NM_001077350.3(NPRL3):c.768-2del rs1899110688
NM_001077350.3(NPRL3):c.980C>T (p.Pro327Leu) rs1898841618
NM_001112741.2(KCNC1):c.282G>T (p.Trp94Cys) rs1848764853
NM_001122752.2(SERPINI1):c.586C>T (p.Pro196Ser) rs1443427135
NM_001134407.3(GRIN2A):c.1400T>A (p.Leu467His) rs2042668320
NM_001134407.3(GRIN2A):c.1579C>A (p.Pro527Thr)
NM_001134407.3(GRIN2A):c.2047G>C (p.Gly683Arg)
NM_001134407.3(GRIN2A):c.2221A>G (p.Arg741Gly) rs1903135567
NM_001134407.3(GRIN2A):c.2335_2336delinsAG (p.Leu779Arg) rs1903126465
NM_001134407.3(GRIN2A):c.2336T>G (p.Leu779Trp) rs1555488084
NM_001134407.3(GRIN2A):c.2844del (p.Gln950fs)
NM_001161352.2(KCNMA1):c.152C>T (p.Ser51Phe) rs2093884478
NM_001161352.2(KCNMA1):c.1831G>C (p.Val611Leu) rs200668674
NM_001161352.2(KCNMA1):c.2993A>G (p.Asn998Ser) rs2052158751
NM_001242896.3(DEPDC5):c.2783C>T (p.Ala928Val) rs1250427988
NM_001242896.3(DEPDC5):c.3479A>T (p.Asp1160Val) rs1419496771
NM_005097.4(LGI1):c.253G>A (p.Gly85Arg) rs2133976199
NM_005097.4(LGI1):c.790G>C (p.Glu264Gln)
NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter) rs886037963
NM_006545.5(NPRL2):c.586-3C>A rs775206926
NM_006545.5(NPRL2):c.683T>C (p.Leu228Pro) rs1559856358
NM_006922.4(SCN3A):c.3092T>A (p.Phe1031Tyr) rs1687091780
NM_020361.5(CPA6):c.619C>T (p.Gln207Ter) rs35993949
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_020822.3(KCNT1):c.2323C>G (p.Pro775Ala) rs751320619
NM_020822.3(KCNT1):c.2464C>T (p.Arg822Trp) rs746067661
NM_153026.3(PRICKLE1):c.128A>G (p.Glu43Gly) rs1938359399

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.