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: rs1554050517
rs1554050517
DNAH5
5 13792120 frameshift variant -/G ins
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 0
dbSNP: rs1561487416
rs1561487416
DNAH5
5 13876701 frameshift variant -/CA ins
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 0
dbSNP: rs779506456
rs779506456
DNAH5
5 13829618 frameshift variant -/A ins 4.0E-06 7.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 0
dbSNP: rs397515540
rs397515540
DNAH5
1.000 0.160 5 13753290 frameshift variant A/- del 1.6E-04 2.1E-04
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 4 2006 2014
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
dbSNP: rs755136231
rs755136231
DNAH5
1.000 0.160 5 13791995 frameshift variant TTTGGTTC/- del 2.0E-05 1.4E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2002 2006
dbSNP: rs1305797678
rs1305797678
DNAH5
5 13769584 frameshift variant C/- del 8.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 1 2015 2015
dbSNP: rs727502977
rs727502977
DNAH5
5 13919319 frameshift variant C/- del 1.4E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 1 2006 2006
dbSNP: rs1474945018
rs1474945018
DNAH5
5 13829611 frameshift variant T/- del 4.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 0
dbSNP: rs1554082872
rs1554082872
DNAH5
5 13865866 frameshift variant G/- del
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 0
dbSNP: rs1561241156
rs1561241156
DNAH5
5 13780916 frameshift variant A/- del
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 0
dbSNP: rs754698253
rs754698253
DNAH5
5 13867922 frameshift variant A/- del 2.8E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 0
dbSNP: rs769691189
rs769691189
DNAH5
5 13752252 frameshift variant A/- del 4.0E-06 1.4E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 0
dbSNP: rs775866092
rs775866092
DNAH5
5 13871696 frameshift variant T/- del 4.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 0
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: 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: 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: 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: rs727502971
rs727502971
DNAH5
5 13708264 frameshift variant GTCT/- delins 2.0E-05 2.8E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2006 2009
dbSNP: rs1443540935
rs1443540935
DNAH5
5 13794045 frameshift variant CTCT/- delins 8.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 1 2014 2014
dbSNP: rs727502975
rs727502975
DNAH5
5 13810180 inframe deletion GCCGCCCCCGCGCTCCACAGC/- delins 7.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 1 2011 2011
dbSNP: rs1060501457
rs1060501457
DNAH5
5 13829680 frameshift variant CC/T delins
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 0
dbSNP: rs1060501459
rs1060501459
DNAH5
5 13793713 frameshift variant -/AT delins 4.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 0
dbSNP: rs1353723750
rs1353723750
DNAH5
5 13753249 frameshift variant CTTT/- delins 4.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 0