ClinVar Miner

List of variants reported as benign for epilepsy by Mendelics

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_014334.4(FRRS1L):c.-3C>G rs10979724 0.99999
NM_173354.5(SIK1):c.1844C>T (p.Ala615Val) rs430554 0.85362
NM_018723.4(RBFOX1):c.-64+166491C>A rs7187508 0.62707
NM_020822.3(KCNT1):c.600+59A>C rs59909130 0.57178
NM_020822.3(KCNT1):c.600+60G>A rs56375931 0.51258
NM_005076.5(CNTN2):c.1097C>T (p.Pro366Leu) rs2229866 0.36917
NM_006950.3(SYN1):c.152C>G (p.Ala51Gly) rs187134574 0.01317
NM_032737.4(LMNB2):c.704G>A (p.Arg235Gln) rs121912497 0.01005
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser) rs25409 0.00354
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799 0.00159
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650 0.00127
NM_020708.5(SLC12A5):c.2855G>A (p.Arg952His) rs142740233 0.00102
NM_001165963.4(SCN1A):c.5782C>G (p.Arg1928Gly) rs121917956 0.00073
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp) rs121917910 0.00070
NM_000742.4(CHRNA2):c.140C>T (p.Thr47Met) rs74772771 0.00036
NM_001165963.4(SCN1A):c.3749C>T (p.Thr1250Met) rs140731963 0.00025
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala) rs147522594 0.00016
NM_172107.4(KCNQ2):c.2613G>T (p.Arg871Ser) rs587780369 0.00008
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile) rs587780353 0.00004
NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu) rs372425457 0.00004
NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys) rs121918807 0.00003
NM_000330.4(RS1):c.185-3176C>T rs747799506 0.00001
NM_001040142.2(SCN2A):c.982T>G (p.Phe328Val) rs781204054 0.00001
NM_001165963.4(SCN1A):c.4855A>G (p.Met1619Val) rs373967247 0.00001
NM_001323289.2(CDKL5):c.1767C>T (p.His589=) rs267608645 0.00001
NC_012920.1(MT-CYB):m.16230A>G rs2853514
NC_012920.1(MT-CYB):m.16274G>A rs144095641
NC_012920.1(MT-CYB):m.16319G>A rs35105996
NM_001042646.3(TRAK1):c.1963+101GGA[12] rs10634555
NM_001182.5(ALDH7A1):c.246+7GT[16] rs142510783
NM_001182.5(ALDH7A1):c.914-118dup rs759132307
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser) rs74582884
NM_016373.4(WWOX):c.535G>A (p.Ala179Thr) rs11545029
NM_020822.3(KCNT1):c.600+71dup rs879903723
NM_139058.3(ARX):c.306GGC[11] (p.Ala115dup) rs387906492
NM_172107.4(KCNQ2):c.1118+1G>A rs397507449
NM_172107.4(KCNQ2):c.1632-1G>T rs118192233

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