ClinVar Miner

List of variants reported as likely pathogenic for Alport syndrome 1, X-linked recessive

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
Download table as spreadsheet
HGVS dbSNP
NG_011977.1:g.1_264622del
NG_012059.2:g.1_302925del
NM_000495.5(COL4A5):c.1033-6A>G rs869025330
NM_000495.5(COL4A5):c.1387G>C (p.Gly463Arg) rs1556410516
NM_000495.5(COL4A5):c.1480G>C (p.Gly494Arg) rs1569493662
NM_000495.5(COL4A5):c.1690G>C (p.Gly564Arg) rs281874674
NM_000495.5(COL4A5):c.1708G>A (p.Gly570Arg)
NM_000495.5(COL4A5):c.1771G>A (p.Gly591Arg) rs1569494061
NM_000495.5(COL4A5):c.2183G>A (p.Gly728Glu)
NM_000495.5(COL4A5):c.2332G>C (p.Gly778Arg)
NM_000495.5(COL4A5):c.2537G>A (p.Gly846Glu) rs1569497690
NM_000495.5(COL4A5):c.2579G>A (p.Gly860Asp) rs1556419831
NM_000495.5(COL4A5):c.2587G>A (p.Gly863Ser)
NM_000495.5(COL4A5):c.2615G>C (p.Gly872Ala) rs1556419869
NM_000495.5(COL4A5):c.2642G>T (p.Gly881Val) rs1556419895
NM_000495.5(COL4A5):c.2686G>A (p.Gly896Ser) rs1556420349
NM_000495.5(COL4A5):c.2695G>A (p.Gly899Ser) rs1556420358
NM_000495.5(COL4A5):c.2963G>A (p.Gly988Glu) rs1569498623
NM_000495.5(COL4A5):c.3304del (p.Asp1102fs) rs1569504068
NM_000495.5(COL4A5):c.3347G>T (p.Gly1116Val) rs281874713
NM_000495.5(COL4A5):c.3509G>A (p.Gly1170Asp) rs1060499710
NM_000495.5(COL4A5):c.3924G>A (p.Gln1308=) rs281874724
NM_000495.5(COL4A5):c.3960del (p.Gly1321fs) rs1131692246
NM_000495.5(COL4A5):c.421G>A (p.Gly141Ser) rs1556403112
NM_000495.5(COL4A5):c.4371dup (p.Val1458fs) rs1569508360
NM_000495.5(COL4A5):c.4511-345A>G rs1569508899
NM_000495.5(COL4A5):c.4786G>A (p.Gly1596Ser)
NM_000495.5(COL4A5):c.4793C>T (p.Ser1598Phe) rs1569509257
NM_000495.5(COL4A5):c.4896T>G (p.Cys1632Trp) rs1569509336
NM_000495.5(COL4A5):c.547G>A (p.Gly183Ser) rs1556404985
NM_000495.5(COL4A5):c.584G>T (p.Gly195Val) rs104886061
NM_000495.5(COL4A5):c.619G>A (p.Gly207Ser) rs1569490379
NM_000495.5(COL4A5):c.638G>T (p.Gly213Val) rs104886066
NM_000495.5(COL4A5):c.707G>A (p.Gly236Asp) rs1556406001
NM_000495.5(COL4A5):c.81+4A>C rs1569469484
NM_000495.5(COL4A5):c.929G>T (p.Gly310Val) rs1556407064

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.