List of variants reported as uncertain significance for age-related macular degeneration by Mendelics

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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile)	rs1801466	0.04126
NM_000350.3(ABCA4):c.2546T>C (p.Val849Ala)	rs61749435	0.00385
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)	rs41292677	0.00308
NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met)	rs61753019	0.00076
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys)	rs61748549	0.00066
NM_031935.3(HMCN1):c.15614G>A (p.Arg5205His)	rs150188026	0.00061
NM_006329.4(FBLN5):c.1051C>T (p.Arg351Trp)	rs28939073	0.00010
NM_000350.3(ABCA4):c.3664_3669del (p.Val1222_Glu1223del)	rs1570367367
NM_000350.3(ABCA4):c.3698T>C (p.Leu1233Pro)	rs1366653130
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg)	rs61748536

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.