ClinVar Miner

List of variants in gene COL4A2 reported as uncertain significance for cerebrovascular disorder

Included ClinVar conditions (54):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 113
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HGVS dbSNP gnomAD frequency
NM_001846.4(COL4A2):c.-87G>A rs895274784 0.00072
NM_001846.4(COL4A2):c.1412G>A (p.Arg471His) rs372173405 0.00042
NM_001846.4(COL4A2):c.*366A>T rs886720876 0.00020
NM_001846.4(COL4A2):c.*796T>C rs958768469 0.00017
NM_001846.4(COL4A2):c.2185G>A (p.Gly729Arg) rs201058867 0.00016
NM_001846.4(COL4A2):c.3455-14G>A rs369510198 0.00013
NM_001846.4(COL4A2):c.1978+4T>C rs372577230 0.00011
NM_001846.4(COL4A2):c.*493C>G rs770230018 0.00010
NM_001846.4(COL4A2):c.2200C>T (p.Pro734Ser) rs761169216 0.00008
NM_001846.4(COL4A2):c.4403-10C>T rs974483781 0.00008
NM_001846.4(COL4A2):c.-117C>T rs996191480 0.00007
NM_001846.4(COL4A2):c.2025G>A (p.Glu675=) rs374972536 0.00005
NM_001846.4(COL4A2):c.2477C>G (p.Pro826Arg) rs1020176452 0.00005
NM_001846.4(COL4A2):c.*254C>T rs978536033 0.00004
NM_001846.4(COL4A2):c.-241C>T rs1444820598 0.00004
NM_001846.4(COL4A2):c.1078+12A>G rs1473673298 0.00004
NM_001846.4(COL4A2):c.1676G>A (p.Arg559Gln) rs199574157 0.00004
NM_001846.4(COL4A2):c.2044A>G (p.Ile682Val) rs761867026 0.00004
NM_001846.4(COL4A2):c.2581C>T (p.Arg861Cys) rs751658527 0.00004
NM_001846.4(COL4A2):c.3502C>T (p.Arg1168Trp) rs375813265 0.00004
NM_001846.4(COL4A2):c.4881+11T>C rs370209795 0.00004
NM_001846.4(COL4A2):c.*563A>G rs886049983 0.00003
NM_001846.4(COL4A2):c.2343C>T (p.Pro781=) rs767050469 0.00003
NM_001846.4(COL4A2):c.2444G>C (p.Gly815Ala) rs780116763 0.00003
NM_001846.4(COL4A2):c.4623C>G (p.Phe1541Leu) rs201158095 0.00003
NM_001846.4(COL4A2):c.4981G>A (p.Gly1661Ser) rs373806617 0.00003
NM_001846.4(COL4A2):c.862-5C>T rs555514799 0.00003
NM_001846.4(COL4A2):c.*390G>A rs1281110806 0.00002
NM_001846.4(COL4A2):c.1108G>C (p.Ala370Pro) rs909040713 0.00002
NM_001846.4(COL4A2):c.1113A>G (p.Gln371=) rs781075845 0.00002
NM_001846.4(COL4A2):c.360+1G>A rs759305120 0.00002
NM_001846.4(COL4A2):c.461G>A (p.Gly154Glu) rs375700657 0.00002
NM_001846.4(COL4A2):c.914G>T (p.Gly305Val) rs377088851 0.00002
NM_001846.4(COL4A2):c.1597-1G>A rs745376502 0.00001
NM_001846.4(COL4A2):c.1738G>A (p.Asp580Asn) rs766981913 0.00001
NM_001846.4(COL4A2):c.1868T>A (p.Leu623Gln) rs886049975 0.00001
NM_001846.4(COL4A2):c.2414C>T (p.Pro805Leu) rs1376206514 0.00001
NM_001846.4(COL4A2):c.2502G>A (p.Leu834=) rs1034589988 0.00001
NM_001846.4(COL4A2):c.2995A>G (p.Met999Val) rs1317550156 0.00001
NM_001846.4(COL4A2):c.313G>A (p.Val105Met) rs772439696 0.00001
NM_001846.4(COL4A2):c.3179C>T (p.Thr1060Met) rs372727377 0.00001
NM_001846.4(COL4A2):c.3205C>T (p.Arg1069Trp) rs200165414 0.00001
NM_001846.4(COL4A2):c.3286A>G (p.Thr1096Ala) rs886049978 0.00001
NM_001846.4(COL4A2):c.382C>T (p.Pro128Ser) rs975120661 0.00001
NM_001846.4(COL4A2):c.4084G>A (p.Gly1362Arg) rs757047420 0.00001
NM_001846.4(COL4A2):c.4147G>A (p.Gly1383Arg) rs797044947 0.00001
NM_001846.4(COL4A2):c.4208C>A (p.Thr1403Lys) rs560510434 0.00001
NM_001846.4(COL4A2):c.4291C>T (p.Arg1431Cys) rs139124960 0.00001
NM_001846.4(COL4A2):c.450C>T (p.Pro150=) rs775266949 0.00001
NM_001846.4(COL4A2):c.4850G>A (p.Arg1617Gln) rs748967769 0.00001
NM_001846.4(COL4A2):c.4892C>T (p.Ala1631Val) rs201495557 0.00001
NM_001846.4(COL4A2):c.4906G>A (p.Gly1636Ser) rs753412782 0.00001
NM_001846.4(COL4A2):c.827G>A (p.Gly276Asp) rs372917662 0.00001
NM_001846.4(COL4A2):c.*22C>A rs1884109665
NM_001846.4(COL4A2):c.*242C>T rs886049982
NM_001846.4(COL4A2):c.*450G>T rs541941155
NM_001846.4(COL4A2):c.*830T>C rs886049984
NM_001846.4(COL4A2):c.-220C>T rs1285340381
NM_001846.4(COL4A2):c.-277A>G rs7989823
NM_001846.4(COL4A2):c.-44-5T>C rs886049966
NM_001846.4(COL4A2):c.-77G>A rs547827059
NM_001846.4(COL4A2):c.1340-1G>C rs1566544453
NM_001846.4(COL4A2):c.1451G>C (p.Arg484Thr) rs886049972
NM_001846.4(COL4A2):c.1453_1469del (p.Cys485fs)
NM_001846.4(COL4A2):c.1517G>A (p.Gly506Asp) rs1881894360
NM_001846.4(COL4A2):c.1607G>A (p.Gly536Asp) rs2139498756
NM_001846.4(COL4A2):c.1706G>A (p.Gly569Glu) rs886049973
NM_001846.4(COL4A2):c.1772C>G (p.Pro591Arg) rs886049974
NM_001846.4(COL4A2):c.186G>T (p.Gln62His)
NM_001846.4(COL4A2):c.1934G>A (p.Gly645Asp) rs2139503632
NM_001846.4(COL4A2):c.2105G>C (p.Gly702Ala) rs2139508226
NM_001846.4(COL4A2):c.2132G>A (p.Gly711Glu) rs1199170231
NM_001846.4(COL4A2):c.2187G>T (p.Gly729=) rs1319150301
NM_001846.4(COL4A2):c.2269C>T (p.Pro757Ser) rs1882537795
NM_001846.4(COL4A2):c.2429G>A (p.Ser810Asn) rs372516991
NM_001846.4(COL4A2):c.2515G>A (p.Gly839Arg)
NM_001846.4(COL4A2):c.2555C>T (p.Pro852Leu)
NM_001846.4(COL4A2):c.2758+8T>C rs1882858975
NM_001846.4(COL4A2):c.284C>A (p.Ala95Asp) rs754829210
NM_001846.4(COL4A2):c.286C>T (p.Pro96Ser) rs1880406303
NM_001846.4(COL4A2):c.2908C>T (p.Arg970Ter)
NM_001846.4(COL4A2):c.305A>G (p.Lys102Arg) rs1302254625
NM_001846.4(COL4A2):c.3094A>G (p.Ile1032Val) rs2139529268
NM_001846.4(COL4A2):c.316-5C>G rs886049967
NM_001846.4(COL4A2):c.3205del (p.Arg1069fs)
NM_001846.4(COL4A2):c.3208-14A>G rs886049977
NM_001846.4(COL4A2):c.3277A>G (p.Ile1093Val)
NM_001846.4(COL4A2):c.3332C>T (p.Thr1111Ile) rs886049979
NM_001846.4(COL4A2):c.3397C>T (p.Pro1133Ser) rs1883277373
NM_001846.4(COL4A2):c.3473G>C (p.Gly1158Ala)
NM_001846.4(COL4A2):c.361-5C>T rs886049968
NM_001846.4(COL4A2):c.3884G>A (p.Arg1295Gln)
NM_001846.4(COL4A2):c.3896G>A (p.Gly1299Glu) rs2139552061
NM_001846.4(COL4A2):c.3915T>C (p.Ala1305=) rs886049980
NM_001846.4(COL4A2):c.3976G>A (p.Gly1326Arg)
NM_001846.4(COL4A2):c.398G>T (p.Gly133Val)
NM_001846.4(COL4A2):c.4230_4257del (p.Pro1413fs)
NM_001846.4(COL4A2):c.4264C>T (p.Gln1422Ter)
NM_001846.4(COL4A2):c.431C>G (p.Ser144Ter)
NM_001846.4(COL4A2):c.4452C>T (p.Arg1484=) rs1883883239
NM_001846.4(COL4A2):c.4453A>G (p.Ser1485Gly) rs753103440
NM_001846.4(COL4A2):c.4561G>A (p.Glu1521Lys) rs182278784
NM_001846.4(COL4A2):c.4903G>C (p.Gly1635Arg)
NM_001846.4(COL4A2):c.4969G>A (p.Glu1657Lys) rs1232600556
NM_001846.4(COL4A2):c.49C>G (p.Leu17Val) rs200430407
NM_001846.4(COL4A2):c.5111G>T (p.Arg1704Leu) rs747313370
NM_001846.4(COL4A2):c.5125A>G (p.Met1709Val) rs370681819
NM_001846.4(COL4A2):c.549+5G>A rs886049969
NM_001846.4(COL4A2):c.670C>G (p.Pro224Ala) rs1240828595
NM_001846.4(COL4A2):c.751A>G (p.Asn251Asp) rs1880869213
NM_001846.4(COL4A2):c.922G>C (p.Gly308Arg) rs2139468768
NM_001846.4(COL4A2):c.964C>T (p.Arg322Ter)
NM_001846.4(COL4A2):c.992A>G (p.Asp331Gly) rs886049971

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