ClinVar Miner

List of variants in gene COL4A1 reported as benign for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 44
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001845.6(COL4A1):c.1663= (p.Pro555=) rs536174 0.99999
NM_001845.6(COL4A1):c.616-11G>C rs645114 0.84459
NM_001845.6(COL4A1):c.3877-9C>T rs589985 0.63996
NM_001845.6(COL4A1):c.859-10T>C rs677877 0.57082
NM_001845.6(COL4A1):c.903+18G>A rs482757 0.56804
NM_001845.6(COL4A1):c.780+7G>A rs598893 0.56762
NM_001845.6(COL4A1):c.432T>A (p.Ala144=) rs532625 0.42890
NM_001845.6(COL4A1):c.4470C>T (p.Ala1490=) rs1133219 0.35362
NM_001845.6(COL4A1):c.3183G>A (p.Gly1061=) rs874204 0.33827
NM_001845.6(COL4A1):c.3189A>T (p.Arg1063=) rs874203 0.33819
NM_001845.6(COL4A1):c.2130G>A (p.Pro710=) rs16975492 0.32653
NM_001845.6(COL4A1):c.1257T>C (p.Pro419=) rs995224 0.25994
NM_001845.6(COL4A1):c.85-11T>C rs41275104 0.22726
NM_001845.6(COL4A1):c.4640+16G>A rs2275842 0.14797
NM_001845.6(COL4A1):c.4640+7C>T rs2275843 0.14797
NM_001845.6(COL4A1):c.234+8C>T rs9521650 0.13807
NM_001845.6(COL4A1):c.4800C>T (p.Ser1600=) rs650724 0.13448
NM_001845.6(COL4A1):c.1991-16G>A rs72654112 0.10351
NM_001845.6(COL4A1):c.1815T>C (p.Pro605=) rs61749897 0.07832
NM_001845.6(COL4A1):c.501C>T (p.Pro167=) rs16975612 0.01708
NM_001845.6(COL4A1):c.2124G>A (p.Gly708=) rs78426988 0.01512
NM_001845.6(COL4A1):c.279+20A>T rs79359215 0.01095
NM_001845.6(COL4A1):c.4005C>T (p.Gly1335=) rs140722653 0.00856
NM_001845.6(COL4A1):c.3996C>T (p.Gly1332=) rs150857429 0.00816
NM_001845.6(COL4A1):c.3693G>A (p.Thr1231=) rs117738194 0.00782
NM_001845.6(COL4A1):c.1121-18G>A rs139885514 0.00644
NM_001845.6(COL4A1):c.393G>A (p.Glu131=) rs34458255 0.00546
NM_001845.6(COL4A1):c.4203C>T (p.Asp1401=) rs141714960 0.00519
NM_001845.6(COL4A1):c.3776C>G (p.Pro1259Arg) rs146329532 0.00352
NM_001845.6(COL4A1):c.4755+18C>T rs191620431 0.00315
NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu) rs34004222 0.00274
NM_001845.6(COL4A1):c.2647G>A (p.Val883Ile) rs41275090 0.00180
NM_001845.6(COL4A1):c.3877-8G>A rs370539477 0.00124
NM_001845.6(COL4A1):c.2502T>G (p.Pro834=) rs147764548 0.00083
NM_001845.6(COL4A1):c.3774T>C (p.Leu1258=) rs139578640 0.00034
NM_001845.6(COL4A1):c.1725G>A (p.Ser575=) rs370332353 0.00016
NM_001845.6(COL4A1):c.2096-16del rs112508409
NM_001845.6(COL4A1):c.2096-27dup rs112508409
NM_001845.6(COL4A1):c.2144G>A (p.Arg715His) rs199573161
NM_001845.6(COL4A1):c.3326-13dup rs139122216
NM_001845.6(COL4A1):c.4002A>C (p.Gln1334His) rs3742207
NM_001845.6(COL4A1):c.468+5ATTTT[2] rs3832900
NM_001845.6(COL4A1):c.808-7C>A rs9588116
NM_001845.6(COL4A1):c.808-7C>G rs9588116

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.