ClinVar Miner

List of variants studied for epilepsy by Institute of Human Genetics, Cologne University

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_004341.5(CAD):c.6253C>T (p.Arg2085Cys) rs376465227 0.00002
NM_001100913.3(PACS2):c.1507T>C (p.Trp503Arg) rs2081031883 0.00001
NM_001040142.2(SCN2A):c.4879G>C (p.Val1627Leu)
NM_001040142.2(SCN2A):c.5588A>G (p.Lys1863Arg)
NM_001134407.3(GRIN2A):c.3219del (p.Glu1073fs)
NM_001165963.4(SCN1A):c.982del (p.Glu328fs) rs2105874493
NM_001184880.2(PCDH19):c.1006G>A (p.Val336Met)
NM_001242896.3(DEPDC5):c.4253dup (p.Val1419fs)
NM_001330260.2(SCN8A):c.4841C>A (p.Thr1614Asn)
NM_001353921.2(ARHGEF9):c.536A>G (p.Asn179Ser) rs2051813469
NM_001605.3(AARS1):c.1897del (p.Arg633fs) rs2152154412
NM_001605.3(AARS1):c.2873T>C (p.Phe958Ser) rs1555539157
NM_001605.3(AARS1):c.86C>T (p.Ser29Phe) rs2152170413
NM_004341.5(CAD):c.928C>T (p.Pro310Ser) rs774492044
NM_005918.4(MDH2):c.187G>A (p.Gly63Arg)
NM_006772.3(SYNGAP1):c.1971G>C (p.Trp657Cys)
NM_015076.5(CDK19):c.1234G>T (p.Ala412Ser)
NM_172107.4(KCNQ2):c.1055C>G (p.Ser352Trp)
NM_198503.5(KCNT2):c.1731_1738del (p.Phe578fs) rs2148151806

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