ClinVar Miner

List of variants in gene COL4A2 reported as likely benign for central nervous system disorder

Included ClinVar conditions (2498):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001846.4(COL4A2):c.549+15G>C rs74124318 0.03560
NM_001846.4(COL4A2):c.594C>T (p.Pro198=) rs74124319 0.02997
NM_001846.4(COL4A2):c.315+14G>T rs78713113 0.02155
NM_001846.4(COL4A2):c.732C>T (p.Asp244=) rs144319016 0.00870
NM_001846.4(COL4A2):c.3448C>A (p.Gln1150Lys) rs62621875 0.00869
NM_001846.4(COL4A2):c.888A>G (p.Gly296=) rs114482753 0.00777
NM_001846.4(COL4A2):c.4929G>A (p.Pro1643=) rs7320105 0.00302
NM_001846.4(COL4A2):c.5068G>A (p.Ala1690Thr) rs201105747 0.00151
NM_001846.4(COL4A2):c.4987G>A (p.Gly1663Ser) rs12877501 0.00043
NM_001846.4(COL4A2):c.4916C>T (p.Ser1639Leu) rs77786415 0.00024
NM_001846.4(COL4A2):c.5085C>T (p.Ala1695=) rs150809854 0.00021
NM_001846.4(COL4A2):c.3257C>T (p.Ala1086Val) rs370679299 0.00016
NM_001846.4(COL4A2):c.1978+10A>G rs766115921 0.00011
NM_001846.4(COL4A2):c.783C>A (p.Ile261=) rs369814411 0.00011
NM_001846.4(COL4A2):c.4731C>T (p.Pro1577=) rs72659607 0.00009
NM_001846.4(COL4A2):c.4286-12G>A rs553663121 0.00008
NM_001846.4(COL4A2):c.1776C>T (p.Pro592=) rs767094122 0.00007
NM_001846.4(COL4A2):c.3258G>A (p.Ala1086=) rs267603756 0.00006
NM_001846.4(COL4A2):c.4683C>T (p.Asn1561=) rs368443057 0.00006
NM_001846.4(COL4A2):c.1570G>A (p.Gly524Ser) rs773783775 0.00004
NM_001846.4(COL4A2):c.2553G>T (p.Gly851=) rs764978267 0.00004
NM_001846.4(COL4A2):c.1263C>T (p.Tyr421=) rs757264758 0.00003
NM_001846.4(COL4A2):c.2095+14G>A rs768710957 0.00002
NM_001846.4(COL4A2):c.2902+5G>C rs377140964 0.00002
NM_001846.4(COL4A2):c.415G>A (p.Gly139Arg) rs373792475 0.00002
NM_001846.4(COL4A2):c.1053C>T (p.Tyr351=) rs768513619 0.00001
NM_001846.4(COL4A2):c.2095+5T>C rs376823280 0.00001
NM_001846.4(COL4A2):c.1208C>T (p.Pro403Leu) rs772448912

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.