ClinVar Miner

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

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Total variants: 44
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HGVS dbSNP gnomAD frequency
NC_000013.11:g.110148959A>G rs56406633 0.02412
NM_001845.6(COL4A1):c.1000-13C>G rs115358624 0.01174
NM_001845.6(COL4A1):c.4005C>T (p.Gly1335=) rs140722653 0.00856
NM_001845.6(COL4A1):c.4640+8G>A rs117566874 0.00671
NM_001845.6(COL4A1):c.393G>A (p.Glu131=) rs34458255 0.00546
NM_001845.6(COL4A1):c.3949+10C>T rs188122235 0.00488
NM_001845.6(COL4A1):c.*975A>C rs28362515 0.00280
NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu) rs34004222 0.00274
NM_001845.6(COL4A1):c.-103G>A rs538721412 0.00227
NM_001845.6(COL4A1):c.4056C>T (p.Tyr1352=) rs140210015 0.00194
NM_001845.6(COL4A1):c.3877-8G>A rs370539477 0.00124
NM_001845.6(COL4A1):c.*1014C>T rs139916479 0.00121
NM_001845.6(COL4A1):c.904-9C>T rs201481886 0.00116
NM_001845.6(COL4A1):c.3506-7C>G rs377592935 0.00105
NM_001845.6(COL4A1):c.651+4_651+5insCAC rs760194800 0.00087
NM_001845.6(COL4A1):c.690C>T (p.Asp230=) rs149688210 0.00049
NM_001845.6(COL4A1):c.3198+10G>A rs202002553 0.00048
NM_001845.6(COL4A1):c.708C>G (p.Val236=) rs139523466 0.00048
NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr) rs751749989 0.00048
NM_001845.6(COL4A1):c.*609T>C rs189966143 0.00036
NM_001845.6(COL4A1):c.3288A>G (p.Pro1096=) rs2305082 0.00030
NM_001845.6(COL4A1):c.781-12G>A rs202198648 0.00022
NM_001845.6(COL4A1):c.329T>C (p.Ile110Thr) rs138269346 0.00021
NM_001845.6(COL4A1):c.2968+12A>G rs752476229 0.00012
NM_001845.6(COL4A1):c.2285T>C (p.Val762Ala) rs374930028 0.00009
NM_001845.6(COL4A1):c.405C>T (p.Leu135=) rs138888319 0.00009
NM_001845.6(COL4A1):c.2869+6T>C rs557198622 0.00008
NM_001845.6(COL4A1):c.4441C>T (p.Arg1481Trp) rs199586038 0.00008
NM_001845.6(COL4A1):c.4442G>A (p.Arg1481Gln) rs376607450 0.00007
NM_001845.6(COL4A1):c.4658C>T (p.Ala1553Val) rs201150281 0.00007
NM_001845.6(COL4A1):c.1858G>C (p.Ala620Pro) rs372803920 0.00006
NM_001845.6(COL4A1):c.3164C>T (p.Pro1055Leu) rs375787099 0.00006
NM_001845.6(COL4A1):c.1110C>T (p.Pro370=) rs368143409 0.00004
NM_001845.6(COL4A1):c.3743-15C>T rs375583789 0.00004
NM_001845.6(COL4A1):c.4010C>T (p.Pro1337Leu) rs189728415 0.00004
NM_001845.6(COL4A1):c.994G>C (p.Gly332Arg) rs150182714 0.00003
NM_001845.6(COL4A1):c.2571G>A (p.Ser857=) rs376513801 0.00002
NM_001845.6(COL4A1):c.145-5T>C rs749251030 0.00001
NM_001845.6(COL4A1):c.2985A>G (p.Pro995=) rs200504781 0.00001
NM_001845.6(COL4A1):c.3054G>A (p.Leu1018=) rs149543327 0.00001
NM_001845.6(COL4A1):c.4271C>T (p.Pro1424Leu) rs760889798 0.00001
NM_001845.6(COL4A1):c.1838C>G (p.Pro613Arg) rs146091004
NM_001845.6(COL4A1):c.3326-13dup rs139122216
NM_001845.6(COL4A1):c.4797G>A (p.Ala1599=) rs146638269

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