List of variants reported as uncertain significance for cataract 1 multiple types by Illumina Laboratory Services, Illumina

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: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005267.5(GJA8):c.994G>A (p.Glu332Lys)	rs143688085	0.00048
NM_005267.5(GJA8):c.1096G>A (p.Val366Met)	rs782056871	0.00004
NM_005267.5(GJA8):c.183C>T (p.Cys61=)	rs782213276	0.00003
NM_005267.5(GJA8):c.58G>A (p.Val20Ile)	rs782298787	0.00002
NM_005267.5(GJA8):c.1069A>G (p.Thr357Ala)	rs782584748	0.00001
NM_005267.5(GJA8):c.1163C>T (p.Ser388Leu)	rs1453803597	0.00001
NM_005267.5(GJA8):c.1274G>C (p.Arg425Pro)	rs150041151	0.00001
NM_005267.5(GJA8):c.1296C>T (p.Thr432=)	rs782581406	0.00001
NM_005267.5(GJA8):c.665T>C (p.Met222Thr)	rs782579752	0.00001
NM_005267.5(GJA8):c.-11-4T>G	rs1651864498
NM_005267.5(GJA8):c.-43A>G	rs1651656949
NM_005267.5(GJA8):c.285C>T (p.His95=)	rs886045253
NM_005267.5(GJA8):c.300C>T (p.Val100=)	rs886045254
NM_005267.5(GJA8):c.670T>C (p.Leu224=)	rs782211254
NM_005267.5(GJA8):c.678C>A (p.His226Gln)	rs201476382
NM_005267.5(GJA8):c.875T>C (p.Leu292Pro)	rs886045255

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.