ClinVar Miner

List of variants reported as uncertain significance for Brain small vessel disease 1 with or without ocular anomalies by Illumina Laboratory Services, Illumina

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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_001845.6(COL4A1):c.-103G>A rs538721412 0.00227
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.*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.3431C>G (p.Thr1144Arg) rs769021800 0.00003
NM_001845.6(COL4A1):c.1056G>A (p.Pro352=) rs531373470 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.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.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.1605C>T (p.Phe535=) rs139448202
NM_001845.6(COL4A1):c.2016A>G (p.Pro672=) rs1391929875
NM_001845.6(COL4A1):c.2594A>G (p.Gln865Arg) rs776874008
NM_001845.6(COL4A1):c.2774A>G (p.Asp925Gly) rs1188217302
NM_001845.6(COL4A1):c.3018T>G (p.Leu1006=) rs886049959
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.354C>T (p.Gly118=) rs1879852432
NM_001845.6(COL4A1):c.3557-14T>C rs886049957
NM_001845.6(COL4A1):c.380G>T (p.Gly127Val) rs886049963
NM_001845.6(COL4A1):c.4021+14T>A rs755709828
NM_001845.6(COL4A1):c.4591A>G (p.Met1531Val) rs1343193102
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.766A>G (p.Thr256Ala) rs886049962
NM_001845.6(COL4A1):c.82A>G (p.Lys28Glu) rs886049964

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