ClinVar Miner

List of variants in gene COL4A5 reported by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

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Gene type:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
GRCh37/hg19 Xq22.3(chrX:107683356-107683436)
NM_033380.3(COL4A5):c.1402C>T (p.Gln468Ter) rs1603287820
NM_033380.3(COL4A5):c.1423G>A (p.Gly475Ser) rs281874667
NM_033380.3(COL4A5):c.1424-2A>C rs759179999
NM_033380.3(COL4A5):c.1481del (p.Gly494fs)
NM_033380.3(COL4A5):c.1673G>A (p.Gly558Asp) rs1603290148
NM_033380.3(COL4A5):c.1751_1756del (p.Pro584_Gly585del) rs1603290199
NM_033380.3(COL4A5):c.1807G>A (p.Gly603Ser) rs1603290681
NM_033380.3(COL4A5):c.188dup (p.Phe64fs) rs1603276159
NM_033380.3(COL4A5):c.1904G>T (p.Gly635Val) rs281874683
NM_033380.3(COL4A5):c.1976_1977del (p.Ile659fs) rs1603291770
NM_033380.3(COL4A5):c.2048_2050del (p.Pro683_Gly684delinsArg) rs1603292021
NM_033380.3(COL4A5):c.2104G>C (p.Gly702Arg)
NM_033380.3(COL4A5):c.225del (p.Gln76fs) rs1603276180
NM_033380.3(COL4A5):c.2300dup (p.Lys768fs) rs1603293553
NM_033380.3(COL4A5):c.2314G>A (p.Gly772Ser) rs1603293570
NM_033380.3(COL4A5):c.2359G>A (p.Gly787Arg) rs1603293605
NM_033380.3(COL4A5):c.2378G>A (p.Gly793Glu) rs1603293624
NM_033380.3(COL4A5):c.2465G>T (p.Gly822Val) rs1291655627
NM_033380.3(COL4A5):c.2606G>T (p.Gly869Val) rs1603297334
NM_033380.3(COL4A5):c.3008G>T (p.Gly1003Val)
NM_033380.3(COL4A5):c.3197G>A (p.Gly1066Asp) rs104886221
NM_033380.3(COL4A5):c.3206G>T (p.Gly1069Val) rs281874712
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser) rs104886228
NM_033380.3(COL4A5):c.3499G>A (p.Gly1167Ser) rs104886236
NM_033380.3(COL4A5):c.367G>A (p.Gly123Arg) rs1569488426
NM_033380.3(COL4A5):c.3685G>A (p.Gly1229Ser) rs1569505771
NM_033380.3(COL4A5):c.3721G>T (p.Gly1241Cys) rs104886255
NM_033380.3(COL4A5):c.3772G>A (p.Gly1258Ser) rs1603311030
NM_033380.3(COL4A5):c.4063del (p.Glu1355fs) rs1556453276
NM_033380.3(COL4A5):c.4217-1G>A rs587776402
NM_033380.3(COL4A5):c.446del (p.Pro149fs) rs104886054
NM_033380.3(COL4A5):c.4470T>G (p.Tyr1490Ter) rs1603323355
NM_033380.3(COL4A5):c.4543_4544insTTAG (p.Cys1515fs) rs1603326397
NM_033380.3(COL4A5):c.4808A>G (p.Tyr1603Cys) rs104886298
NM_033380.3(COL4A5):c.5038C>T (p.Arg1680Ter) rs281874753
NM_033380.3(COL4A5):c.538G>A (p.Gly180Arg) rs281874755
NM_033380.3(COL4A5):c.546+1G>A rs104886429
NM_033380.3(COL4A5):c.546+2dup rs1569489353
NM_033380.3(COL4A5):c.609+1G>A rs104886434
NM_033380.3(COL4A5):c.611G>A (p.Gly204Asp) rs104886063
NM_033380.3(COL4A5):c.645+1G>T rs1603282474
NM_033380.3(COL4A5):c.687del (p.Gly230fs) rs1556405926
NM_033380.3(COL4A5):c.761_762del (p.Glu254fs) rs104886443
NM_033380.3(COL4A5):c.817G>A (p.Gly273Arg)
NM_033380.3(COL4A5):c.866G>A (p.Gly289Asp) rs104886450
NM_033380.3(COL4A5):c.919G>C (p.Gly307Arg)
NM_033380.3(COL4A5):c.956G>T (p.Gly319Val)
NM_033380.3(COL4A5):c.973G>A (p.Gly325Arg) rs104886088
NM_033380.3(COL4A5):c.973G>C (p.Gly325Arg) rs104886088

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