Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1060499775
ITGA7
12 55707550 frameshift variant -/T ins 1
rs180177135
PALB2
0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 27
rs398122967
TBC1D24
0.827 0.280 16 2498262 frameshift variant T/- del 7.4E-05 4.9E-05 12
rs587776508
C12orf65 ; CDK2AP1
0.882 0.040 12 123253922 frameshift variant T/- del 4.0E-06 4
rs1557966012
ASPM
1.000 0.120 1 197143564 frameshift variant C/- del 2
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs312262830
OFD1
0.882 0.160 X 13739017 frameshift variant GAAA/- delins 4
rs199422125
MCPH1
0.925 0.120 8 6436147 frameshift variant -/A delins 3
rs397515352
CLN6
0.925 0.120 15 68211844 frameshift variant -/G delins 2.4E-05; 2.8E-05 3
rs587777819
POMT1
0.925 0.120 9 131523038 frameshift variant TC/-;TCTC delins 7.0E-06 3
rs1060499768
SPG11
1.000 0.080 15 44584505 frameshift variant T/- delins 2
rs869312812
PGAP3
1.000 17 39684627 frameshift variant G/-;GG delins 2
rs1060499753
UBQLN1
9 83683022 frameshift variant T/- delins 1
rs1060499770
ZEB2
2 144429823 frameshift variant ACCCTCC/- delins 1
rs11300320
GALC
14 87950752 intron variant AA/-;A;AAA delins 0.96 1
rs1554226470
SNX14
6 85533736 frameshift variant -/T delins 1
rs762879329
SLC18A2
10 117255281 frameshift variant C/-;CC delins 1
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs398122965
TBC1D24
0.807 0.280 16 2496872 missense variant C/T snv 1.2E-05 2.8E-05 13
rs201257588
TBC1D24
0.882 0.280 16 2496206 stop gained C/G;T snv 6.0E-05 9
rs398122966
TBC1D24
0.882 0.280 16 2496266 missense variant C/T snv 8.0E-06 9
rs398122968
TBC1D24
0.882 0.280 16 2499425 splice region variant G/A snv 9
rs747821285
TBC1D24
0.882 0.280 16 2496476 missense variant G/A snv 4.1E-06 9
rs760474458
TBC1D24
0.882 0.280 16 2496267 missense variant G/A;C;T snv 4.0E-06; 2.0E-05; 4.0E-06 9
rs797044548
TBC1D24
0.882 0.280 16 2498253 missense variant G/T snv 9