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: rs1057519535
rs1057519535
KCNQ2
0.925 0.040 20 63439652 missense variant C/A;G snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1057519536
rs1057519536
KCNQ2
0.925 0.040 20 63442424 missense variant A/T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1057519537
rs1057519537
STXBP1
1.000 0.040 9 127682423 stop gained G/A snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1057519538
rs1057519538
STXBP1
1.000 0.040 9 127651622 inframe deletion AAA/- del
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1057519539
rs1057519539
STXBP1
1.000 0.040 9 127678479 stop gained G/A;T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1057519540
rs1057519540
SCN8A
0.925 0.160 12 51768895 missense variant A/G snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1057519542
rs1057519542
CDKL5
1.000 0.040 X 18604372 frameshift variant -/GACC delins
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1057519545
rs1057519545
SYNGAP1
1.000 0.040 6 33435225 missense variant G/C snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1057519547
rs1057519547
HCN1
0.925 0.040 5 45396550 missense variant C/T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1057519548
rs1057519548
HCN1
0.925 0.040 5 45645575 missense variant C/G snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1057519549
rs1057519549
GABRB3
0.925 0.040 15 26567655 missense variant G/A snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1057519550
rs1057519550
GABRB3
0.925 0.040 15 26621403 missense variant T/G snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1064794262
rs1064794262
CACNA1A
0.925 0.040 19 13303831 frameshift variant CT/- del
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1179351306
rs1179351306
KCNB1 ; LOC105372649
1.000 0.040 20 49374576 stop gained G/A;C snv 8.0E-06
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs118192211
rs118192211
KCNQ2
0.790 0.080 20 63439644 missense variant G/A;C snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs118192235
rs118192235
KCNQ2 ; LOC105372724
0.882 0.080 20 63413471 missense variant C/A;T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1485894376
rs1485894376
CACNA2D2
1.000 0.040 3 50375876 missense variant C/G;T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1553525325
rs1553525325
SCN1A ; SCN1A-AS1 ; LOC102724058
0.807 0.120 2 166002716 missense variant A/T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1553567473
rs1553567473
SCN2A
0.925 0.040 2 165309193 missense variant A/G snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1553920379
rs1553920379
PPP3CA
0.776 0.160 4 101032294 frameshift variant -/AGTA delins
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1554208945
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1555850842
rs1555850842
KCNQ2
1.000 0.040 20 63407136 frameshift variant -/G delins
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1555889090
rs1555889090
KCNB1 ; LOC105372649
1.000 0.040 20 49374416 missense variant C/G;T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1555889108
rs1555889108
KCNB1 ; LOC105372649
0.925 0.040 20 49374559 missense variant A/G snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1555889127
rs1555889127
KCNB1 ; LOC105372649
1.000 0.040 20 49374625 missense variant C/T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0