Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1568940442
rs1568940442
KCNQ2
20 63444765 missense variant G/A snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 5 2007 2015
dbSNP: rs1564367605
rs1564367605
KCNT1
9 135768856 missense variant G/A snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 3 2015 2017
dbSNP: rs797044938
rs797044938
KCNQ2
20 63442529 missense variant C/A;G snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2016 2016
dbSNP: rs868732642
rs868732642
MFSD8
4 127938782 splice donor variant C/A;T snv 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2012 2012
dbSNP: rs1057517891
rs1057517891
POLG
15 89333346 stop gained G/A snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1060499740
rs1060499740
CINP
14 102348559 stop lost A/C snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1189909394
rs1189909394
KCNK4 ; KCNK4-TEX40
11 64298178 missense variant G/A;C snv 7.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1372605067
rs1372605067
DEPDC5
22 31821593 frameshift variant CT/- delins 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs137939966
rs137939966
MYOCD
17 12752540 missense variant A/G snv 1.6E-04 8.4E-04
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1444879414
rs1444879414
ALDH7A1
5 126595148 frameshift variant -/T delins 6.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1461148946
rs1461148946
FLNA
X 154354979 missense variant A/C snv 9.3E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1553315329
rs1553315329
SPAST
2 32116153 stop gained C/A;T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1553510492
rs1553510492
TBR1
2 161419040 missense variant A/G snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1553531385
rs1553531385
SCN1A ; SCN1A-AS1 ; LOC102724058
2 166012262 frameshift variant AATA/- del
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1560747815
rs1560747815
MFSD8
4 127939999 splice acceptor variant T/A snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1565369746
rs1565369746
KCNK4 ; KCNK4-TEX40
11 64297507 missense variant C/A snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1567379470
rs1567379470
STX1B
16 31001195 splice acceptor variant T/C snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1568927820
rs1568927820
KCNQ2
20 63439686 missense variant T/C snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1569232705
rs1569232705
DEPDC5
22 31897565 stop gained C/G snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs375562245
rs375562245
CTSF
11 66566363 stop gained G/A;C snv 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs724159951
rs724159951
DYRK1A
21 37493101 missense variant T/C snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs724159952
rs724159952
DYRK1A ; LOC105372797
21 37490451 frameshift variant -/G delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs724159954
rs724159954
DYRK1A ; LOC105372797
21 37490353 frameshift variant -/A delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs724159956
rs724159956
DYRK1A
21 37496249 frameshift variant -/G delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs778003597
rs778003597
ALDH7A1
5 126559300 frameshift variant -/G delins 8.0E-06 7.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0