List of variants reported as likely benign for Stargardt disease 4 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: 29

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006017.3(PROM1):c.1345G>A (p.Val449Met)	rs200620291	0.00152
NM_006017.3(PROM1):c.2211+7C>T	rs372262346	0.00150
NM_006017.3(PROM1):c.714A>G (p.Gly238=)	rs201662148	0.00088
NM_006017.3(PROM1):c.1491G>T (p.Leu497Phe)	rs200520976	0.00070
NM_006017.3(PROM1):c.1928C>G (p.Ala643Gly)	rs62617075	0.00065
NM_006017.3(PROM1):c.2284A>G (p.Ser762Gly)	rs202029748	0.00058
NM_006017.3(PROM1):c.2112C>T (p.Arg704=)	rs375358457	0.00036
NM_006017.3(PROM1):c.1911+8G>A	rs370302107	0.00033
NM_006017.3(PROM1):c.963G>T (p.Leu321Phe)	rs202041422	0.00026
NM_006017.3(PROM1):c.2271C>T (p.Ile757=)	rs375986111	0.00022
NM_006017.3(PROM1):c.843C>T (p.His281=)	rs374394451	0.00019
NM_006017.3(PROM1):c.376G>A (p.Val126Met)	rs199556426	0.00009
NM_006017.3(PROM1):c.1152G>C (p.Arg384Ser)	rs201748228	0.00005
NM_006017.3(PROM1):c.2582+9A>C	rs200033458	0.00005
NM_006017.3(PROM1):c.1195C>T (p.Arg399Cys)	rs770268627	0.00004
NM_006017.3(PROM1):c.1199T>C (p.Leu400Pro)	rs140682455	0.00004
NM_006017.3(PROM1):c.1407G>A (p.Pro469=)	rs763710252	0.00004
NM_006017.3(PROM1):c.2364C>T (p.Ile788=)	rs551849678	0.00004
NM_006017.3(PROM1):c.1301+10T>A	rs192338518	0.00003
NM_006017.3(PROM1):c.1301+11C>A	rs189953160	0.00003
NM_006017.3(PROM1):c.276+15G>T	rs766012920	0.00003
NM_006017.3(PROM1):c.1377C>T (p.Gly459=)	rs779072238	0.00002
NM_006017.3(PROM1):c.1468A>T (p.Ser490Cys)	rs536622788	0.00002
NM_006017.3(PROM1):c.2578A>G (p.Thr860Ala)	rs747844753	0.00002
NM_006017.3(PROM1):c.1710C>T (p.Tyr570=)	rs201644238	0.00001
NM_006017.3(PROM1):c.1738A>C (p.Asn580His)	rs199674847	0.00001
NM_006017.3(PROM1):c.2309C>A (p.Pro770His)	rs568361529	0.00001
NM_006017.3(PROM1):c.158G>A (p.Gly53Asp)	rs755064227
NM_006017.3(PROM1):c.2094C>A (p.Ser698Arg)	rs199727800

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.