ClinVar Miner

List of variants in gene COL4A1 reported as uncertain significance for Brain small vessel disease 1 with or without ocular anomalies

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 97
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001845.6(COL4A1):c.911C>T (p.Pro304Leu) rs34843786 0.00357
NM_001845.6(COL4A1):c.-103G>A rs538721412 0.00227
NM_001845.6(COL4A1):c.1000-5T>G rs75711155 0.00155
NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr) rs751749989 0.00048
NM_001845.6(COL4A1):c.2007C>T (p.Pro669=) rs145645897 0.00025
NM_001845.6(COL4A1):c.2126C>T (p.Pro709Leu) rs150129180 0.00025
NM_001845.6(COL4A1):c.3742+14G>A rs377503687 0.00025
NM_001845.6(COL4A1):c.553-8C>T rs199534388 0.00022
NM_001845.6(COL4A1):c.*137G>A rs886049956 0.00019
NM_001845.6(COL4A1):c.3170T>C (p.Ile1057Thr) rs569940067 0.00015
NM_001845.6(COL4A1):c.*477G>T rs886049955 0.00014
NM_001845.6(COL4A1):c.*995C>T rs769502575 0.00014
NM_001845.6(COL4A1):c.-71C>G rs867117624 0.00011
NM_001845.6(COL4A1):c.*265A>G rs555157539 0.00009
NM_001845.6(COL4A1):c.2903G>A (p.Arg968Gln) rs146288748 0.00009
NM_001845.6(COL4A1):c.4442G>A (p.Arg1481Gln) rs376607450 0.00007
NM_001845.6(COL4A1):c.*433T>G rs1051748243 0.00005
NM_001845.6(COL4A1):c.234+9G>A rs374115295 0.00005
NM_001845.6(COL4A1):c.4038T>C (p.Pro1346=) rs372556002 0.00004
NM_001845.6(COL4A1):c.*1099G>A rs193065628 0.00003
NM_001845.6(COL4A1):c.*530A>G rs967749737 0.00003
NM_001845.6(COL4A1):c.1055C>T (p.Pro352Leu) rs200786329 0.00003
NM_001845.6(COL4A1):c.3431C>G (p.Thr1144Arg) rs769021800 0.00003
NM_001845.6(COL4A1):c.1056G>A (p.Pro352=) rs531373470 0.00002
NM_001845.6(COL4A1):c.1729G>C (p.Gly577Arg) rs752009614 0.00002
NM_001845.6(COL4A1):c.2262C>T (p.Pro754=) rs750538499 0.00002
NM_001845.6(COL4A1):c.957+6C>T rs754165294 0.00002
NM_001845.6(COL4A1):c.*1039A>G rs776016334 0.00001
NM_001845.6(COL4A1):c.*6C>G rs762512053 0.00001
NM_001845.6(COL4A1):c.-101G>T rs1884771928 0.00001
NM_001845.6(COL4A1):c.-20G>T rs886049965 0.00001
NM_001845.6(COL4A1):c.1385A>G (p.Gln462Arg) rs750386918 0.00001
NM_001845.6(COL4A1):c.1470C>T (p.Phe490=) rs749215704 0.00001
NM_001845.6(COL4A1):c.1752G>A (p.Glu584=) rs765423555 0.00001
NM_001845.6(COL4A1):c.1837C>G (p.Pro613Ala) rs1432737813 0.00001
NM_001845.6(COL4A1):c.2095+7C>G rs886049961 0.00001
NM_001845.6(COL4A1):c.2344+11G>A rs886049960 0.00001
NM_001845.6(COL4A1):c.2344+12C>A rs373696600 0.00001
NM_001845.6(COL4A1):c.2492C>T (p.Pro831Leu) rs1351737168 0.00001
NM_001845.6(COL4A1):c.2706G>A (p.Pro902=) rs754208625 0.00001
NM_001845.6(COL4A1):c.2732C>T (p.Pro911Leu) rs778143775 0.00001
NM_001845.6(COL4A1):c.3329G>T (p.Ser1110Ile) rs774198019 0.00001
NM_001845.6(COL4A1):c.3832G>A (p.Gly1278Ser) rs757453900 0.00001
NM_001845.6(COL4A1):c.409C>T (p.Pro137Ser) rs148290885 0.00001
NM_001845.6(COL4A1):c.4166T>C (p.Val1389Ala) rs1357289362 0.00001
NM_001845.6(COL4A1):c.4271C>T (p.Pro1424Leu) rs760889798 0.00001
NM_001845.6(COL4A1):c.*510A>G rs886049954
NM_001845.6(COL4A1):c.*531T>A rs886049953
NM_001845.6(COL4A1):c.*634AT[8] rs886049952
NM_001845.6(COL4A1):c.*887del rs886049951
NM_001845.6(COL4A1):c.*952A>G rs1876400313
NM_001845.6(COL4A1):c.-90G>A rs113651836
NM_001845.6(COL4A1):c.1081A>C (p.Lys361Gln) rs1879231791
NM_001845.6(COL4A1):c.1121-986C>T rs2139188713
NM_001845.6(COL4A1):c.144+1G>A rs2139245731
NM_001845.6(COL4A1):c.1605C>T (p.Phe535=) rs139448202
NM_001845.6(COL4A1):c.1670G>C (p.Arg557Thr)
NM_001845.6(COL4A1):c.1739G>A (p.Gly580Glu)
NM_001845.6(COL4A1):c.1789C>T (p.Arg597Cys) rs767374916
NM_001845.6(COL4A1):c.2016A>G (p.Pro672=) rs1391929875
NM_001845.6(COL4A1):c.2036G>T (p.Gly679Val) rs2139169535
NM_001845.6(COL4A1):c.2143C>T (p.Arg715Cys)
NM_001845.6(COL4A1):c.2472A>G (p.Ile824Met)
NM_001845.6(COL4A1):c.2594A>G (p.Gln865Arg) rs776874008
NM_001845.6(COL4A1):c.2627-1G>A rs1064796811
NM_001845.6(COL4A1):c.2705C>G (p.Pro902Arg) rs146134172
NM_001845.6(COL4A1):c.2774A>G (p.Asp925Gly) rs1188217302
NM_001845.6(COL4A1):c.2848A>G (p.Lys950Glu)
NM_001845.6(COL4A1):c.2924G>A (p.Gly975Glu) rs2139162708
NM_001845.6(COL4A1):c.2947_2964dup (p.Ala983_Gln988dup) rs2139162654
NM_001845.6(COL4A1):c.3018T>G (p.Leu1006=) rs886049959
NM_001845.6(COL4A1):c.3077G>C (p.Gly1026Ala) rs1877834496
NM_001845.6(COL4A1):c.3238G>A (p.Glu1080Lys) rs1877800291
NM_001845.6(COL4A1):c.3241A>G (p.Lys1081Glu) rs886049958
NM_001845.6(COL4A1):c.3297A>C (p.Lys1099Asn)
NM_001845.6(COL4A1):c.3353G>A (p.Gly1118Asp) rs1566349690
NM_001845.6(COL4A1):c.3358A>G (p.Lys1120Glu) rs1566349683
NM_001845.6(COL4A1):c.3526C>T (p.Pro1176Ser)
NM_001845.6(COL4A1):c.354C>T (p.Gly118=) rs1879852432
NM_001845.6(COL4A1):c.3556+4A>G
NM_001845.6(COL4A1):c.3557-14T>C rs886049957
NM_001845.6(COL4A1):c.3607C>T (p.Pro1203Ser)
NM_001845.6(COL4A1):c.364A>C (p.Ile122Leu)
NM_001845.6(COL4A1):c.380G>T (p.Gly127Val) rs886049963
NM_001845.6(COL4A1):c.4021+14T>A rs755709828
NM_001845.6(COL4A1):c.4433G>A (p.Gly1478Asp)
NM_001845.6(COL4A1):c.4463G>T (p.Gly1488Val)
NM_001845.6(COL4A1):c.446C>G (p.Pro149Arg) rs1879801583
NM_001845.6(COL4A1):c.4591A>G (p.Met1531Val) rs1343193102
NM_001845.6(COL4A1):c.460_461delinsAT (p.Gly154Met)
NM_001845.6(COL4A1):c.4660C>A (p.Pro1554Thr)
NM_001845.6(COL4A1):c.4928A>G (p.Lys1643Arg) rs1876538166
NM_001845.6(COL4A1):c.495T>A (p.His165Gln) rs762125888
NM_001845.6(COL4A1):c.647A>G (p.Glu216Gly)
NM_001845.6(COL4A1):c.766A>G (p.Thr256Ala) rs886049962
NM_001845.6(COL4A1):c.82A>G (p.Lys28Glu) rs886049964
NM_001845.6(COL4A1):c.89G>A (p.Gly30Asp)

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.