List of variants reported as likely benign for Joubert syndrome with ocular defect by Fulgent Genetics, Fulgent Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 28

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001134831.2(AHI1):c.3015A>G (p.Ser1005=)	rs41287054	0.01682
NM_001134831.2(AHI1):c.1152-11T>G	rs113317693	0.01324
NM_001134831.2(AHI1):c.1404A>G (p.Glu468=)	rs36069919	0.00187
NM_001134831.2(AHI1):c.1533T>G (p.Val511=)	rs373669500	0.00058
NM_001134831.2(AHI1):c.3342A>G (p.Glu1114=)	rs199708272	0.00041
NM_001134831.2(AHI1):c.2418G>A (p.Leu806=)	rs201235386	0.00035
NM_001134831.2(AHI1):c.1270A>G (p.Ile424Val)	rs562905902	0.00029
NM_001134831.2(AHI1):c.136-8C>T	rs370834009	0.00021
NM_001134831.2(AHI1):c.3588+15A>T	rs370223538	0.00015
NM_001134831.2(AHI1):c.135+19G>A	rs374973889	0.00011
NM_001134831.2(AHI1):c.82C>T (p.Arg28Cys)	rs199612496	0.00011
NM_001134831.2(AHI1):c.1149T>C (p.Asp383=)	rs371944986	0.00010
NM_001134831.2(AHI1):c.573A>C (p.Ala191=)	rs200993978	0.00007
NM_001134831.2(AHI1):c.1494A>G (p.Leu498=)	rs185249049	0.00006
NM_001134831.2(AHI1):c.2037-7T>C	rs539801988	0.00005
NM_001134831.2(AHI1):c.3329-20A>G	rs1004117268	0.00004
NM_001134831.2(AHI1):c.1917T>C (p.Tyr639=)	rs764412921	0.00003
NM_001134831.2(AHI1):c.3285G>A (p.Lys1095=)	rs1016306200	0.00003
NM_001134831.2(AHI1):c.931+8A>G	rs763944345	0.00003
NM_001134831.2(AHI1):c.2623+12T>C	rs763402338	0.00002
NM_001134831.2(AHI1):c.1683G>A (p.Val561=)	rs757056964	0.00001
NM_001134831.2(AHI1):c.1719C>T (p.Asp573=)	rs886038629	0.00001
NM_001134831.2(AHI1):c.190-17A>G	rs762843841	0.00001
NM_001134831.2(AHI1):c.2718A>G (p.Ala906=)	rs765434425	0.00001
NM_001044385.3(TMEM237):c.80-18dup	rs747217784
NM_001134831.2(AHI1):c.1516C>A (p.Arg506=)	rs371637724
NM_001134831.2(AHI1):c.2374-12del	rs766929085
NM_001134831.2(AHI1):c.406T>C (p.Leu136=)	rs1299907778

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.