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: rs752925056
rs752925056
DNAH5
5 13841051 frameshift variant -/T delins 6.0E-05 4.9E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 3 2002 2016
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: rs753614861
rs753614861
DNAH5
1.000 0.160 5 13830026 missense variant C/T snv 2.0E-05 5.6E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 3 1990 2013
dbSNP: rs768986129
rs768986129
RSPH4A
6 116628368 splice donor variant TAGG/- delins 1.2E-05 2.8E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 3 2009 2013
dbSNP: rs769458738
rs769458738
DNAH5
5 13753489 missense variant C/T snv 2.0E-05 6.3E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 3 2012 2015
dbSNP: rs775696136
rs775696136
DNAH5
5 13701316 frameshift variant -/A delins 6.4E-05 8.4E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 3 2006 2014
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: rs878854457
rs878854457
DNAH5
5 13850651 splice donor variant C/G snv 4.0E-06 7.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 3 2002 2012
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: rs1060501461
rs1060501461
DNAH5
5 13829661 frameshift variant T/- delins 7.0E-06
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: rs118204043
rs118204043
RSPH4A
1.000 0.120 6 116628175 stop gained C/T snv 8.0E-06 2.1E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2009 2012
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: rs1304504006
rs1304504006
DNAH5
5 13753490 missense variant G/A snv 2.0E-05 3.5E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2009 2013
dbSNP: rs138815960
rs138815960
ZMYND10
0.925 0.160 3 50345533 splice donor variant A/C snv 2.7E-04 2.1E-04
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2013 2013
dbSNP: rs139519641
rs139519641
DNAAF1
16 84174723 splice donor variant G/A snv 4.2E-04 4.0E-04
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2009 2009
dbSNP: rs147718607
rs147718607
CCDC114
0.925 0.160 19 48303953 missense variant C/T snv 2.4E-04 2.2E-04
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