Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1350201776
ZNF335
20 45952244 missense variant C/T snv 4.0E-06 3
rs1553315329
SPAST
2 32116153 stop gained C/A;T snv 3
rs864309530
LYST
1 235806165 missense variant G/T snv 3
rs1057518797
PKD2
4 88008090 frameshift variant CCCGGGCA/TAGGACG delins 3
rs1057518969
PKD2
4 88036325 frameshift variant CT/- delins 3
rs566014072
PKD1
16 2110321 stop gained C/A;G;T snv 8.0E-06; 8.0E-06 3
rs564856283
MYBPC1
12 101642495 missense variant G/A;C snv 3.2E-05 3
rs1057518905
DPM3
1 155140104 missense variant A/T snv 3
rs1555420508
LOC105370794 ; CAPN3
15 42387891 splice region variant G/A snv 3
rs1461148946
FLNA
X 154354979 missense variant A/C snv 9.3E-06 3
rs1060499740
CINP
14 102348559 stop lost A/C snv 3
rs786204927
PTEN
10 87933036 missense variant C/A;G snv 3
rs1556446493
COL4A5
X 108668328 missense variant G/T snv 3
rs1057518898
DYNC2H1
11 103256241 splice donor variant G/A;C snv 4.4E-06 3
rs886043676
DMD
X 31178766 frameshift variant G/- del 3
rs1060499737
DHX37
12 124968903 missense variant G/T snv 3
rs869320640
BCL2L14 ; LRP6
12 12126923 splice acceptor variant T/C snv 3
rs1553153365
HNRNPR
1 23310702 stop gained G/A snv 2
rs1554121353
SYNGAP1 ; MIR5004
6 33438527 frameshift variant A/- del 2
rs1553182964
NFIA
1 61404170 frameshift variant ACTT/- delins 2
rs111033284
MYO7A
11 77156991 missense variant G/A snv 1.6E-05 7.0E-06 2
rs1553268563
USH2A
1 215845823 coding sequence variant C/- delins 2
rs1553631783
CTNNB1
3 41233416 frameshift variant G/- delins 2
rs1555625571
TUBB3
16 89934974 missense variant G/C snv 2
rs1555047506
KMT2A
11 118505003 frameshift variant GTTT/- delins 2