Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1007345781
TTC14 ; CCDC39
3 180616604 frameshift variant GT/- delins 8.7E-06 2.8E-05 1
rs1034327724
RSPH4A
6 116628160 stop gained C/T snv 8.0E-06 2.1E-05 1
rs1060500990
CCDC114
19 48303645 splice region variant C/T snv 1.4E-05 1
rs1060501181
RPGR
X 38297332 stop gained G/A snv 1
rs1060501454
DNAH5
5 13780960 splice acceptor variant C/A;G;T snv 4.0E-06; 4.0E-06 1
rs1060501455
DNAH5
5 13788898 stop gained C/T snv 1
rs1060501456
DNAH5
5 13721014 stop gained G/A snv 7.0E-06 1
rs1060501457
DNAH5
5 13829680 frameshift variant CC/T delins 1
rs1060501458
DNAH5
5 13891020 stop gained G/A snv 7.0E-06 1
rs1060501459
DNAH5
5 13793713 frameshift variant -/AT delins 4.0E-06 1
rs1060501460
DNAH5
1.000 0.160 5 13776447 frameshift variant A/- delins 1.2E-05 2
rs1060501461
DNAH5
5 13829661 frameshift variant T/- delins 7.0E-06 1
rs1060501464
DNAH5
1.000 0.160 5 13735167 stop gained G/A snv 4.0E-06 2
rs1060501466
DNAH5
5 13867773 splice donor variant C/A snv 1
rs1060501467
DNAH5
5 13708130 stop gained C/A;T snv 1
rs1060501719
CCDC40
17 80087748 frameshift variant CA/ACCG delins 1
rs1060501861
RSPH1
21 42486448 frameshift variant -/T delins 4.0E-06 2.8E-05 1
rs1060502202
DNAI2
17 74301057 stop gained G/A snv 1
rs1060502829
DNAAF1
16 84149072 stop gained C/T snv 1
rs1060502831
LOC101930593 ; DNAAF3
19 55161694 frameshift variant -/CGTCG delins 1
rs1060503041
DNAH11
7 21748743 splice donor variant G/A snv 1
rs1060503063
DNAH11
7 21842641 stop gained C/T snv 1.4E-05 1
rs1060503064
DNAH11
7 21854418 missense variant T/C snv 1
rs1060503095
DNAAF4-CCPG1 ; DNAAF4
15 55497816 frameshift variant GGA/AG delins 1
rs1060503388
CCNO
5 55231653 stop gained G/A snv 5.3E-06 1