ClinVar Miner

List of variants in gene COL4A2 reported as uncertain significance by Illumina Laboratory Services, Illumina

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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_001846.4(COL4A2):c.-87G>A rs895274784 0.00072
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.3455-14G>A rs369510198 0.00013
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.*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.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.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.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.2502G>A (p.Leu834=) rs1034589988 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.450C>T (p.Pro150=) rs775266949 0.00001
NM_001846.4(COL4A2):c.4850G>A (p.Arg1617Gln) rs748967769 0.00001
NM_001846.4(COL4A2):c.4864G>A (p.Gly1622Arg) rs541766007 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.*413_*414del rs760146256
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.1706G>A (p.Gly569Glu) rs886049973
NM_001846.4(COL4A2):c.1772C>G (p.Pro591Arg) rs886049974
NM_001846.4(COL4A2):c.2187G>T (p.Gly729=) rs1319150301
NM_001846.4(COL4A2):c.2317C>T (p.Pro773Ser) rs886049976
NM_001846.4(COL4A2):c.2429G>A (p.Ser810Asn) rs372516991
NM_001846.4(COL4A2):c.2758+8T>C rs1882858975
NM_001846.4(COL4A2):c.305A>G (p.Lys102Arg) rs1302254625
NM_001846.4(COL4A2):c.316-5C>G rs886049967
NM_001846.4(COL4A2):c.3208-14A>G rs886049977
NM_001846.4(COL4A2):c.3332C>T (p.Thr1111Ile) rs886049979
NM_001846.4(COL4A2):c.361-5C>T rs886049968
NM_001846.4(COL4A2):c.3915T>C (p.Ala1305=) rs886049980
NM_001846.4(COL4A2):c.4040-11_4040-8del rs756684753
NM_001846.4(COL4A2):c.4452C>T (p.Arg1484=) rs1883883239
NM_001846.4(COL4A2):c.4561G>A (p.Glu1521Lys) rs182278784
NM_001846.4(COL4A2):c.5111G>T (p.Arg1704Leu) rs747313370
NM_001846.4(COL4A2):c.549+5G>A rs886049969
NM_001846.4(COL4A2):c.751A>G (p.Asn251Asp) rs1880869213
NM_001846.4(COL4A2):c.907C>T (p.Leu303=) rs886049970
NM_001846.4(COL4A2):c.992A>G (p.Asp331Gly) rs886049971

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