ClinVar Miner

List of variants in gene COL4A4 reported as likely benign for Alport syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 62
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000092.5(COL4A4):c.*581G>A rs79659665 0.01689
NM_000092.5(COL4A4):c.3486A>G (p.Pro1162=) rs2229815 0.01659
NM_000092.5(COL4A4):c.2008G>A (p.Val670Ile) rs34236495 0.01622
NM_000092.5(COL4A4):c.2439A>T (p.Gly813=) rs34835657 0.01612
NM_000092.5(COL4A4):c.1323T>C (p.Pro441=) rs35830639 0.01576
NM_000092.5(COL4A4):c.4656G>A (p.Met1552Ile) rs77104306 0.01346
NM_000092.5(COL4A4):c.2791G>A (p.Ala931Thr) rs75875272 0.01243
NM_000092.5(COL4A4):c.2796G>A (p.Lys932=) rs34591179 0.01236
NM_000092.5(COL4A4):c.2717-5A>T rs1800519 0.01182
NM_000092.5(COL4A4):c.*3690A>G rs149243282 0.00945
NM_000092.5(COL4A4):c.*841G>A rs11556632 0.00854
NM_000092.5(COL4A4):c.*4164C>T rs147109071 0.00850
NM_000092.5(COL4A4):c.198A>G (p.Pro66=) rs147947155 0.00681
NM_000092.5(COL4A4):c.*472A>T rs77268230 0.00670
NM_000092.5(COL4A4):c.*2311C>T rs77079951 0.00666
NM_000092.5(COL4A4):c.*2239T>C rs79443960 0.00664
NM_000092.5(COL4A4):c.3871C>G (p.Pro1291Ala) rs34728338 0.00619
NM_000092.5(COL4A4):c.-101-4A>G rs147186690 0.00562
NM_000092.5(COL4A4):c.*718G>C rs183147767 0.00543
NM_000092.5(COL4A4):c.2907A>C (p.Ser969=) rs116354015 0.00506
NM_000092.5(COL4A4):c.1833T>C (p.Gly611=) rs145806603 0.00479
NM_000092.5(COL4A4):c.*3636C>T rs147995299 0.00469
NM_000092.5(COL4A4):c.4082-8C>T rs139571413 0.00420
NM_000092.5(COL4A4):c.50A>G (p.Lys17Arg) rs114969026 0.00341
NM_000092.5(COL4A4):c.5016A>G (p.Glu1672=) rs34761049 0.00264
NM_000092.5(COL4A4):c.4731G>A (p.Ala1577=) rs200639109 0.00257
NM_000092.5(COL4A4):c.2717-15C>A rs143886681 0.00199
NM_000092.5(COL4A4):c.1776T>C (p.Ala592=) rs188655353 0.00101
NM_000092.5(COL4A4):c.195T>C (p.Gly65=) rs201278620 0.00082
NM_000092.5(COL4A4):c.4185G>A (p.Gly1395=) rs55978207 0.00057
NM_000092.5(COL4A4):c.1812T>C (p.His604=) rs371381056 0.00056
NM_000092.5(COL4A4):c.2241C>T (p.Pro747=) rs374510402 0.00048
NM_000092.5(COL4A4):c.2877C>T (p.Pro959=) rs79470996 0.00035
NM_000092.5(COL4A4):c.193-9C>G rs190570269 0.00020
NM_000092.5(COL4A4):c.929G>A (p.Arg310Gln) rs373741172 0.00020
NM_000092.5(COL4A4):c.4195A>T (p.Met1399Leu) rs149117087 0.00019
NM_000092.5(COL4A4):c.3885T>C (p.Gly1295=) rs199839937 0.00018
NM_000092.5(COL4A4):c.4857T>C (p.Pro1619=) rs184776061 0.00017
NM_000092.5(COL4A4):c.2430C>G (p.Gly810=) rs769363556 0.00015
NM_000092.5(COL4A4):c.3531C>T (p.Asn1177=) rs201699649 0.00011
NM_000092.5(COL4A4):c.3705A>G (p.Pro1235=) rs752638078 0.00010
NM_000092.5(COL4A4):c.2171G>A (p.Arg724His) rs200146486 0.00009
NM_000092.5(COL4A4):c.2751C>T (p.Pro917=) rs544472944 0.00008
NM_000092.5(COL4A4):c.1665G>A (p.Ala555=) rs137880920 0.00004
NM_000092.5(COL4A4):c.4975T>C (p.Leu1659=) rs368044748 0.00004
NM_000092.5(COL4A4):c.1202C>T (p.Ala401Val) rs199581317 0.00003
NM_000092.5(COL4A4):c.1488T>C (p.Pro496=) rs1405969453 0.00003
NM_000092.5(COL4A4):c.3450T>A (p.Pro1150=) rs751859861 0.00003
NM_000092.5(COL4A4):c.1893A>G (p.Gly631=) rs370886041 0.00002
NM_000092.5(COL4A4):c.861A>G (p.Pro287=) rs747613100 0.00002
NM_000092.5(COL4A4):c.2511G>A (p.Gly837=) rs767522216 0.00001
NM_000092.5(COL4A4):c.3351T>C (p.Pro1117=) rs747784952 0.00001
NM_000092.5(COL4A4):c.3495G>A (p.Pro1165=) rs774011820 0.00001
NM_000092.5(COL4A4):c.*4491_*4494dup rs151077907
NM_000092.5(COL4A4):c.2165-13del rs140965334
NM_000092.5(COL4A4):c.2367A>T (p.Gly789=) rs56247709
NM_000092.5(COL4A4):c.2922T>C (p.Pro974=) rs762735176
NM_000092.5(COL4A4):c.3018A>T (p.Arg1006Ser) rs531161419
NM_000092.5(COL4A4):c.3974-12dup rs200823182
NM_000092.5(COL4A4):c.4760C>G (p.Pro1587Arg) rs190148408
NM_000092.5(COL4A4):c.4809+7dup rs759784585
NM_000092.5(COL4A4):c.736-4del rs750699545

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.