ClinVar Miner

List of variants reported as uncertain significance for epilepsy by MGZ Medical Genetics Center

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 56
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018100.4(EFHC1):c.1058G>A (p.Arg353Gln) rs377732929 0.00008
NM_001323289.2(CDKL5):c.1616G>C (p.Arg539Thr) rs1356745875 0.00002
NM_001040142.2(SCN2A):c.3356C>T (p.Thr1119Ile) rs756738916 0.00001
NM_001184880.2(PCDH19):c.1142A>G (p.Asn381Ser) rs1318908420 0.00001
NM_004975.4(KCNB1):c.1529G>A (p.Gly510Glu) rs767889610 0.00001
NM_052874.5(STX1B):c.845T>C (p.Ile282Thr) rs763428520 0.00001
NC_012920.1(MT-TL1):m.3274A>G rs199474666
NM_000742.4(CHRNA2):c.1465G>T (p.Val489Leu)
NM_000807.4(GABRA2):c.862A>G (p.Thr288Ala)
NM_000814.6(GABRB3):c.589G>T (p.Asp197Tyr)
NM_000836.4(GRIN2D):c.1556G>A (p.Gly519Asp)
NM_000836.4(GRIN2D):c.2393G>A (p.Arg798His)
NM_001040142.2(SCN2A):c.16C>A (p.Leu6Met)
NM_001040142.2(SCN2A):c.2156A>G (p.Glu719Gly)
NM_001040142.2(SCN2A):c.2902G>T (p.Val968Leu)
NM_001040142.2(SCN2A):c.3065G>C (p.Arg1022Pro)
NM_001040142.2(SCN2A):c.4713T>G (p.Ile1571Met)
NM_001077350.3(NPRL3):c.1643G>T (p.Arg548Leu)
NM_001100913.3(PACS2):c.622T>G (p.Ser208Ala)
NM_001127222.2(CACNA1A):c.1016A>G (p.Tyr339Cys)
NM_001127222.2(CACNA1A):c.1555+3_1555+6del rs2058143459
NM_001127222.2(CACNA1A):c.34T>C (p.Tyr12His)
NM_001127222.2(CACNA1A):c.688G>A (p.Gly230Ser) rs1555774859
NM_001134407.3(GRIN2A):c.1309C>G (p.Arg437Gly)
NM_001134407.3(GRIN2A):c.1493G>A (p.Gly498Asp) rs749732928
NM_001165963.4(SCN1A):c.4460A>G (p.Asn1487Ser)
NM_001165963.4(SCN1A):c.4563G>C (p.Lys1521Asn)
NM_001165963.4(SCN1A):c.4876G>C (p.Glu1626Gln)
NM_001165963.4(SCN1A):c.6016G>A (p.Ala2006Thr)
NM_001323289.2(CDKL5):c.2883A>T (p.Ter961Tyr)
NM_001330260.2(SCN8A):c.2105G>C (p.Ser702Thr) rs2138828935
NM_001353921.2(ARHGEF9):c.652C>G (p.Leu218Val) rs2050412325
NM_001371727.1(GABRB2):c.1271T>C (p.Leu424Pro)
NM_001371727.1(GABRB2):c.914T>C (p.Ile305Thr) rs1753822503
NM_001690.4(ATP6V1A):c.524C>T (p.Thr175Ile)
NM_002080.4(GOT2):c.722T>G (p.Phe241Cys)
NM_003042.4(SLC6A1):c.218T>C (p.Leu73Pro)
NM_004974.4(KCNA2):c.1255C>T (p.Arg419Trp) rs1421981152
NM_004974.4(KCNA2):c.640C>A (p.Gln214Lys)
NM_005097.4(LGI1):c.962T>C (p.Ile321Thr)
NM_005458.8(GABBR2):c.1065C>G (p.His355Gln)
NM_005458.8(GABBR2):c.2195G>T (p.Ser732Ile)
NM_005458.8(GABBR2):c.2206C>T (p.Leu736Phe)
NM_006516.4(SLC2A1):c.1223G>A (p.Gly408Asp) rs1570590876
NM_006516.4(SLC2A1):c.1436C>A (p.Pro479His)
NM_006772.3(SYNGAP1):c.815G>A (p.Arg272Gln)
NM_012479.4(YWHAG):c.82A>G (p.Lys28Glu)
NM_015267.4(CUX2):c.1913C>T (p.Pro638Leu)
NM_015267.4(CUX2):c.2101C>A (p.Arg701Ser)
NM_018100.4(EFHC1):c.583G>C (p.Glu195Gln)
NM_170606.3(KMT2C):c.9560C>G (p.Thr3187Ser)
NM_172107.4(KCNQ2):c.1393C>T (p.Arg465Trp)
NM_172107.4(KCNQ2):c.1676T>C (p.Leu559Pro)
NM_198904.4(GABRG2):c.247C>A (p.Pro83Thr)
NM_198904.4(GABRG2):c.941C>A (p.Thr314Lys)
NM_203446.3(SYNJ1):c.3284C>T (p.Pro1095Leu)

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.