ClinVar Miner

List of variants studied for epilepsy by Clinical Genomics Laboratory, Washington University in St. Louis

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.5704C>T (p.Arg1902Cys) rs367833365 0.00005
NM_000100.4(CSTB):c.202C>T (p.Arg68Ter) rs74315442 0.00002
NM_001242896.3(DEPDC5):c.2533C>T (p.Arg845Cys) rs780652126 0.00001
NM_000814.6(GABRB3):c.238A>G (p.Met80Val)
NM_000834.5(GRIN2B):c.233C>G (p.Pro78Arg)
NM_001040142.2(SCN2A):c.626A>G (p.Asp209Gly)
NM_001112741.2(KCNC1):c.1258T>G (p.Cys420Gly)
NM_001127222.2(CACNA1A):c.1586_1587del (p.Phe529fs) rs1555761603
NM_001130438.3(SPTAN1):c.6863C>T (p.Thr2288Met) rs2132089093
NM_001165963.4(SCN1A):c.2415+3A>G
NM_001165963.4(SCN1A):c.2483_2484del (p.Phe828fs)
NM_001165963.4(SCN1A):c.4124A>C (p.His1375Pro)
NM_001165963.4(SCN1A):c.5863A>G (p.Ile1955Val)
NM_001205293.3(CACNA1E):c.3266G>A (p.Ser1089Asn) rs1656022956
NM_001242896.3(DEPDC5):c.1566C>A (p.Asp522Glu)
NM_001242896.3(DEPDC5):c.920T>G (p.Leu307Arg) rs752537116
NM_001271.4(CHD2):c.2425C>T (p.Arg809Ter) rs146691368
NM_001330260.2(SCN8A):c.4913G>A (p.Arg1638His) rs1064794873
NM_001378457.1(DMXL2):c.2314+6T>G
NM_001378457.1(DMXL2):c.3172G>A (p.Gly1058Arg)
NM_004171.4(SLC1A2):c.193C>T (p.Arg65Cys) rs1326870463
NM_004974.4(KCNA2):c.1216G>A (p.Val406Ile) rs1553181257
NM_004974.4(KCNA2):c.794C>G (p.Pro265Arg)
NM_005458.8(GABBR2):c.1662+1G>A rs1832058906
NM_006178.4(NSF):c.1909G>T (p.Gly637Cys)
NM_006772.3(SYNGAP1):c.2050G>C (p.Asp684His)
NM_006772.3(SYNGAP1):c.2294+5G>T
NM_031844.3(HNRNPU):c.2295_2298del (p.Ser764_Tyr765insTer)
NM_139058.3(ARX):c.1142C>T (p.Ala381Val)
NM_173354.5(SIK1):c.742T>C (p.Ser248Pro)

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