List of variants reported as pathogenic for perceptual disorders by Palindrome, Gene Kavoshgaran Aria

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: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_020366.4(RPGRIP1):c.1111C>T (p.Arg371Ter)	rs375859404	0.00004
NM_004183.4(BEST1):c.302C>T (p.Pro101Leu)	rs374517178	0.00002
NM_001298.3(CNGA3):c.488C>T (p.Pro163Leu)	rs104893612	0.00001
NM_000260.4(MYO7A):c.2975_2981delinsCAG (p.Asp992fs)
NM_000283.4(PDE6B):c.1257+1_1257+13del
NM_000283.4(PDE6B):c.1935C>A (p.Tyr645Ter)	rs1737429976
NM_000350.3(ABCA4):c.2713del (p.Glu905fs)	rs869312184
NM_001278293.3(ARL6):c.255-2A>T
NM_001292063.2(OTOG):c.3187C>T (p.Arg1063Ter)
NM_003816.3(ADAM9):c.1189A>T (p.Lys397Ter)
NM_006204.4(PDE6C):c.1483-1G>A
NM_177965.4(CFAP418):c.440G>A (p.Trp147Ter)

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.