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: rs397515363
rs397515363
DNAI1 ; FAM219A
1.000 0.160 9 34459054 splice donor variant -/T delins
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 6 1999 2018
dbSNP: rs138320978
rs138320978
RSPH1
0.925 0.160 21 42493049 stop gained C/A;T snv 2.6E-04; 2.0E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 4 2013 2015
dbSNP: rs575017579
rs575017579
DNAH5
5 13840968 stop gained G/A;C snv 2.8E-05; 8.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 4 2009 2016
dbSNP: rs1175443221
rs1175443221
DNAH11
7 21862024 splice donor variant G/A snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 3 2008 2012
dbSNP: rs1346603171
rs1346603171
CCDC40
17 80048762 splice donor variant G/A snv 4.4E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 3 2011 2013
dbSNP: rs1554281038
rs1554281038
DNAH11
7 21787584 splice donor variant G/A snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 3 2008 2012
dbSNP: rs1568709952
rs1568709952
CCDC40
17 80084989 splice donor variant G/T snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 3 2011 2013
dbSNP: rs370706991
rs370706991
CCDC40
1.000 0.120 17 80089763 splice acceptor variant G/A;T snv 4.0E-06; 3.6E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 3 2011 2013
dbSNP: rs587777499
rs587777499
CCNO
0.925 0.160 5 55233261 frameshift variant -/CGGGC;CGGGCCGGGC delins
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 3 2014 2016
dbSNP: rs62638634
rs62638634
RPGR
0.925 0.080 X 38322921 missense variant C/A snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 3 1997 2000
dbSNP: rs727504802
rs727504802
DNAH5
5 13770905 frameshift variant C/- delins
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 3 2002 2013
dbSNP: rs752924362
rs752924362
DNAI2
1.000 0.160 17 74309345 stop gained G/A;C snv 1.6E-04; 4.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 3 2013 2015
dbSNP: rs753130398
rs753130398
DNAH5
5 13788865 missense variant C/T snv 1.2E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 3 2013 2016
dbSNP: rs863223325
rs863223325
CCDC65
0.925 0.160 12 48918751 frameshift variant AT/- delins
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 3 2013 2015
dbSNP: rs886039340
rs886039340
DNAH11
7 21687528 splice donor variant G/C snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 3 2008 2012
dbSNP: rs1060501460
rs1060501460
DNAH5
1.000 0.160 5 13776447 frameshift variant A/- delins 1.2E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2002 2006
dbSNP: rs1060503388
rs1060503388
CCNO
5 55231653 stop gained G/A snv 5.3E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2014 2015
dbSNP: rs1297857806
rs1297857806
RASSF1 ; ZMYND10
3 50342917 splice donor variant C/T snv 4.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2013 2013
dbSNP: rs1484826593
rs1484826593
DNAH5
5 13718880 splice donor variant A/C;T snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2002 2006
dbSNP: rs148891849
rs148891849
DNAH5
5 13841895 stop gained G/A;C;T snv 2.2E-05; 8.0E-04; 4.3E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2006 2009
dbSNP: rs1560079213
rs1560079213
TTC14 ; CCDC39
3 180616697 splice acceptor variant T/- del
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2011 2013
dbSNP: rs1561097225
rs1561097225
DNAH5
5 13714621 splice acceptor variant C/G snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2002 2006
dbSNP: rs1561215953
rs1561215953
DNAH5
5 13770982 splice acceptor variant T/A snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2002 2006
dbSNP: rs1561524235
rs1561524235
DNAH5
5 13894822 splice acceptor variant C/T snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2002 2006
dbSNP: rs1561532139
rs1561532139
DNAH5
5 13899532 splice donor variant AAAAACTATCTTGTACTTAAATGGGAACTACTGATTCCCTCCTGCTGCTCCAAATACACTAGTTTCGGTTTTCGCCATCTCCATAACTTGAACTTACAGTCAGGGCCCCTGCATGGTATTGTGCAAGTTATGAAGAATGCAACCTACACAGCATTCTACGGCACCCCTGCTTTAATTCATGGAACTGCTCACACCAAAACCACAGGTATTATTCCTGAGTTCTCTTATAACCTGACTGTTGACATAACTCTAAATTCTCCAAACAACTCTGCTGCCATCCCAGTTCAAGCTCTCATCTTCATCCTGGGCCAGTGCAACACTTCACAAACAGGCTTCCCGCTGATACCCCTCGTCCCTCTTAACATCCATTTTCCACCCAGCAGTAAGAATAACTTTTATTATAAAAAGAGATCGTGCCTTTTTCAGTGGCTCGAAATCCTCCAATGGTTTCCTGGTACACTCAAAATAAAACCCAAGCTTCTCATCTTGGCCTGCAAGACCTGTAACGGCCTGGCCCCAGCCAACTCTGCAGCTGCACCCCATGGCACTGTCCCCTCAGTCACTCCATTCATCCTGGCCACTTTCTGCTCCTTGAATATGACACATCACCATATTTTTTTATAATACATTCCAGAGCTAGCCAAGAATGGGGGGAAAAAATAAAAGTAGTATACCTTCATGTTA/- del
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2002 2006