List of variants studied for Alport syndrome 1, X-linked recessive by Mendelics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP
NM_000092.4(COL4A4):c.4760C>G (p.Pro1587Arg)	rs190148408
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met)	rs2229813
NM_033380.3(COL4A5):c.1588-10C>G	rs1603290097
NM_033380.3(COL4A5):c.2005G>T (p.Gly669Cys)	rs281874684
NM_033380.3(COL4A5):c.2107A>G (p.Ile703Val)	rs104886155
NM_033380.3(COL4A5):c.2215C>G (p.Pro739Ala)	rs104886164
NM_033380.3(COL4A5):c.2395+2T>A	rs1603293639
NM_033380.3(COL4A5):c.2722G>A (p.Gly908Arg)	rs281874703
NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val)	rs78972735
NM_033380.3(COL4A5):c.2999G>T (p.Gly1000Val)	rs281874709
NM_033380.3(COL4A5):c.321+2T>G	rs1603279005
NM_033380.3(COL4A5):c.412G>T (p.Gly138Cys)	rs767619131
NM_033380.3(COL4A5):c.4599C>T (p.Cys1533=)	rs1603326524
NM_033380.3(COL4A5):c.4822-1G>T	rs1603328372

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.