ClinVar Miner

List of variants reported as likely pathogenic for epilepsy by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln) rs113994140 0.00003
NM_022786.3(ARV1):c.175-2A>G rs1294383261 0.00001
NM_000944.5(PPP3CA):c.843C>G (p.His281Gln) rs199706529
NM_001037333.3(CYFIP2):c.887A>T (p.Asp296Val)
NM_001127222.2(CACNA1A):c.1647del (p.Phe550fs) rs2058057299
NM_001127222.2(CACNA1A):c.2747G>A (p.Trp916Ter)
NM_001130438.3(SPTAN1):c.1210C>T (p.Gln404Ter) rs2131030804
NM_001130438.3(SPTAN1):c.840dup (p.Asp281Ter) rs2131011877
NM_001165963.4(SCN1A):c.4476G>A (p.Lys1492=) rs1085307730
NM_001205293.3(CACNA1E):c.1090C>T (p.Arg364Ter)
NM_001326342.2(CELF2):c.938_939del (p.Ser313fs)
NM_001330260.2(SCN8A):c.2824_2825insA (p.Trp942Ter) rs2138863024
NM_001365999.1(SZT2):c.6120_6122del (p.Val2041del) rs746200792
NM_001365999.1(SZT2):c.8811del (p.Ser2938fs) rs745420974
NM_003042.4(SLC6A1):c.281G>A (p.Gly94Glu) rs1553688015
NM_003042.4(SLC6A1):c.855G>A (p.Trp285Ter) rs2124924957
NM_003403.5(YY1):c.1133C>G (p.Thr378Ser)
NM_004974.4(KCNA2):c.585dup (p.His196fs)
NM_016023.5(OTUD6B):c.192_195del (p.Glu65fs) rs748735420
NM_173354.5(SIK1):c.1839C>A (p.Cys613Ter)
NM_177550.5(SLC13A5):c.425del (p.Thr142fs) rs2151495220

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