List of variants reported as uncertain significance for Congenital Stationary Night Blindness, Recessive

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: 31

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_198506.5(LRIT3):c.1455C>T (p.Ala485=)	rs149304853	0.00168
NM_145200.5(CABP4):c.*2313del	rs886048580	0.00108
NM_001004334.4(GPR179):c.1837T>A (p.Phe613Ile)	rs190745934	0.00019
NM_145200.5(CABP4):c.242C>T (p.Ala81Val)	rs148140510	0.00016
NM_004727.3(SLC24A1):c.70C>T (p.Arg24Cys)	rs371550495	0.00004
NM_001252024.2(TRPM1):c.4369A>G (p.Met1457Val)	rs760089242	0.00001
NM_004727.3(SLC24A1):c.*1222G>C	rs886051355	0.00001
NM_001004334.4(GPR179):c.*338G>A	rs886052894
NM_001004334.4(GPR179):c.3310_3312del (p.Lys1104del)	rs751393018
NM_001004334.4(GPR179):c.6075A>T (p.Glu2025Asp)	rs759650403
NM_001004334.4(GPR179):c.810G>A (p.Met270Ile)	rs886052898
NM_001252024.2(TRPM1):c.*29dup	rs563082388
NM_001252024.2(TRPM1):c.*540dup	rs886051028
NM_001252024.2(TRPM1):c.1820A>G (p.Lys607Arg)	rs753959724
NM_145200.5(CABP4):c.*1851TA[5]	rs1554998699
NM_145200.5(CABP4):c.*1851TA[6]	rs1554998699
NM_145200.5(CABP4):c.1854_1855insCACA	rs759157298
NM_145200.5(CABP4):c.1856_1857insCA	rs533020503
NM_145200.5(CABP4):c.1856_1857insCACA	rs533020503
NM_145200.5(CABP4):c.*1857CA[3]	rs533020503
NM_145200.5(CABP4):c.*1857delinsCACACACAC	rs886048569
NM_145200.5(CABP4):c.1858_1859insTACA	rs1554998700
NM_145200.5(CABP4):c.1858_1859insTACACA	rs1554998700
NM_145200.5(CABP4):c.*1859CA[11]	rs35146220
NM_145200.5(CABP4):c.*1859CA[16]	rs35146220
NM_145200.5(CABP4):c.1859_1873delinsT	rs886048571
NM_145200.5(CABP4):c.1878_1879insTA	rs886048572
NM_145200.5(CABP4):c.*2176dup	rs754783722
NM_145200.5(CABP4):c.*2327del	rs796540356
NM_145200.5(CABP4):c.541+7_541+8delinsGC	rs34039523
NM_198506.5(LRIT3):c.1752_1754del (p.Leu585del)	rs145776307

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.