ClinVar Miner

List of variants reported as pathogenic for epilepsy by Revvity Omics, Revvity

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_000100.4(CSTB):c.67-1G>C rs147484110 0.00027
NM_016023.5(OTUD6B):c.343C>T (p.Arg115Ter) rs368313959 0.00011
NM_001182.5(ALDH7A1):c.328C>T (p.Arg110Ter) rs121912708 0.00010
NM_001182.5(ALDH7A1):c.1513G>C (p.Gly505Arg) rs556400964 0.00004
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) rs104893950 0.00003
NM_001182.5(ALDH7A1):c.503_506del (p.Ile168fs) rs1064794241 0.00002
NM_000100.4(CSTB):c.136C>T (p.Gln46Ter) rs545986367 0.00001
NM_001182.5(ALDH7A1):c.1547A>G (p.Tyr516Cys) rs200102503 0.00001
NM_001182.5(ALDH7A1):c.530C>A (p.Ala177Glu) rs764417585 0.00001
NM_001182.5(ALDH7A1):c.796C>T (p.Arg266Ter) rs1270423610 0.00001
NM_001182.5(ALDH7A1):c.901_902del (p.Asn301fs) rs1064794240 0.00001
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser) rs587784299 0.00001
NM_005506.4(SCARB2):c.704+1G>A rs886041076 0.00001
NM_007198.4(PLPBP):c.722G>A (p.Arg241Gln) rs760609867 0.00001
NM_018129.4(PNPO):c.178A>T (p.Lys60Ter) rs751477334 0.00001
NM_020771.4(HACE1):c.655C>T (p.Arg219Ter) rs869025280 0.00001
NM_000100.4(CSTB):c.218_219del (p.Leu73fs) rs796943858
NM_000744.7(CHRNA4):c.839C>T (p.Ser280Phe) rs121909580
NM_001032221.6(STXBP1):c.1359+1G>A rs796053370
NM_001032221.6(STXBP1):c.1652G>A (p.Arg551His)
NM_001032221.6(STXBP1):c.170-2A>G rs1554776674
NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln) rs794727970
NM_001032221.6(STXBP1):c.902+1G>A rs886041978
NM_001077350.3(NPRL3):c.419dup (p.Asn140fs) rs2141950334
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys) rs727503940
NM_001182.5(ALDH7A1):c.312+1G>T
NM_001182.5(ALDH7A1):c.902A>T (p.Asn301Ile) rs121912711
NM_001271.4(CHD2):c.3266_3271delinsGTGACTCTGA (p.Thr1089fs) rs2141851950
NM_001271.4(CHD2):c.4173dup (p.Gln1392fs) rs749969667
NM_001271.4(CHD2):c.4233_4236del (p.Glu1412fs) rs864309543
NM_001278512.2(AP3B2):c.1837del (p.Glu613fs) rs1057519272
NM_001278512.2(AP3B2):c.2929C>T (p.Arg977Ter)
NM_001323289.2(CDKL5):c.2636del (p.Leu879fs) rs2147179000
NM_001323289.2(CDKL5):c.533G>A (p.Arg178Gln) rs267606715
NM_001323289.2(CDKL5):c.745-1G>T rs2147153521
NM_001353921.2(ARHGEF9):c.886C>T (p.Arg296Ter) rs1135401795
NM_003042.4(SLC6A1):c.1070C>T (p.Ala357Val) rs1553689859
NM_003042.4(SLC6A1):c.1323+1G>A rs2124932194
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)
NM_005249.5(FOXG1):c.1095_1114del (p.Arg366fs) rs2138661946
NM_005249.5(FOXG1):c.725_731dup (p.His245fs)
NM_005506.4(SCARB2):c.1240_1241delAG (p.Ser414fs) rs1178344132
NM_005506.4(SCARB2):c.434_435dup (p.Trp146fs) rs727502773
NM_005506.4(SCARB2):c.956del (p.Leu319fs) rs1732195544
NM_005670.4(EPM2A):c.108_139del (p.Ala37fs) rs1204045237
NM_005670.4(EPM2A):c.322del (p.Arg108fs) rs2128614455
NM_006772.3(SYNGAP1):c.1167_1168del (p.Gly391fs) rs1060503378
NM_006772.3(SYNGAP1):c.2538dup (p.Gln847fs) rs2151188326
NM_006772.3(SYNGAP1):c.490C>T (p.Arg164Ter) rs1057518352
NM_007198.4(PLPBP):c.211C>T (p.Gln71Ter) rs2129775201
NM_014334.4(FRRS1L):c.808C>T (p.Gln270Ter) rs878853280
NM_014795.4(ZEB2):c.1200_1201del (p.Tyr400_Lys401delinsTer) rs2149877421
NM_014795.4(ZEB2):c.2761C>T (p.Arg921Ter) rs587784566
NM_014795.4(ZEB2):c.904C>T (p.Arg302Ter) rs587784571
NM_016023.5(OTUD6B):c.192_195del (p.Glu65fs) rs748735420
NM_016614.3(TDP2):c.650del (p.Gly217fs) rs1778000792
NM_020708.5(SLC12A5):c.266del (p.Lys89fs) rs2084489672
NM_052876.4(NACC1):c.892C>T (p.Arg298Trp) rs1060505041

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