Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1557106484
ATRX
X 77633315 missense variant C/A snv 7
rs1057518786
SYNGAP1
1.000 6 33441374 splice region variant G/A snv 5
rs377619533
ASXL3
1.000 18 33743312 stop gained C/A;T snv 2.8E-05 5
rs1057516032
ATP1A3
1.000 19 41970211 protein altering variant AGTCT/GA delins 4
rs397514582
KCNQ2
0.925 20 63439656 missense variant C/A;T snv 4
rs750371878
HACE1
0.925 6 104796666 stop gained G/A snv 4.0E-06 1.4E-05 4
rs778899140
PDE10A
0.925 6 165450268 missense variant T/C snv 4.0E-06 3
rs1057518794
ARX
X 25004777 frameshift variant TCTG/- delins 1
rs1057519450
HEATR4 ; ACOT1
14 73537826 frameshift variant AGCCGGTGCGCGCG/- delins 1
rs797046136
EBF3 ; LOC105378558
10 129848391 splice donor variant C/A snv 1
rs1555889127
KCNB1 ; LOC105372649
1.000 0.040 20 49374625 missense variant C/T snv 6
rs1057519567
MDH2
0.882 0.040 7 76063554 frameshift variant G/- delins 5
rs145999922
SLC19A3
0.882 0.040 2 227699378 missense variant A/G snv 4.4E-05 4.2E-05 4
rs775835429
SLC19A3
0.925 0.040 2 227702236 frameshift variant -/TC delins 2.4E-05 2.1E-05 4
rs1057518928
SOX5
1.000 0.040 12 23665471 missense variant G/A snv 3
rs1561500885
SMN1 ; SMN2
1.000 0.040 5 70946138 missense variant T/C snv 2
rs1562927768
KMT2E
0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 15
rs1553511224
TBR1
0.882 0.080 2 161423825 frameshift variant -/C delins 10
rs121434578
ABAT
1.000 0.080 16 8768248 missense variant G/A snv 5
rs1561498701
SMN1 ; SMN2
1.000 0.080 5 70925150 frameshift variant -/GGATTCCG delins 5
rs724159990
ABAT
1.000 0.080 16 8768220 missense variant C/T snv 5
rs724159991
TMEM186 ; ABAT
1.000 0.080 16 8781360 missense variant T/C snv 5
rs724159992
ABAT
1.000 0.080 16 8750498 missense variant G/A snv 1.4E-05 5
rs1057516031
MTM1
1.000 0.080 X 150598681 stop gained G/T snv 3
rs1555736565
CACNA1A
0.925 0.080 19 13230191 missense variant C/A;T snv 3