ClinVar Miner

List of variants reported as likely pathogenic for epilepsy by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001182.5(ALDH7A1):c.1556G>A (p.Arg519Lys) rs561343926 0.00004
NM_003359.4(UGDH):c.131C>T (p.Ala44Val) rs749975104 0.00004
NM_153033.5(KCTD7):c.280C>T (p.Arg94Trp) rs387907260 0.00001
NM_001032221.6(STXBP1):c.785A>T (p.Asp262Val) rs2131473052
NM_001037333.3(CYFIP2):c.2089T>C (p.Cys697Arg) rs2113154685
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918
NM_001199107.2(TBC1D24):c.2T>C (p.Met1Thr)
NM_004113.6(FGF12):c.148G>A (p.Gly50Ser) rs1553798675
NM_004114.5(FGF13):c.14T>G (p.Ile5Ser) rs2124253547
NM_004408.4(DNM1):c.1335+1638G>A rs747079285
NM_005249.5(FOXG1):c.602G>C (p.Arg201Pro) rs2138661213
NM_020822.3(KCNT1):c.3001A>T (p.Thr1001Ser) rs143780942
NM_033453.4(ITPA):c.137del (p.Gln46fs)
NM_153033.5(KCTD7):c.458G>C (p.Arg153Pro) rs765235486
NM_172107.4(KCNQ2):c.316T>G (p.Cys106Gly) rs2145789722
NM_198904.4(GABRG2):c.853C>G (p.Leu285Val) rs1554100507

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