ClinVar Miner

List of variants in gene COL4A5 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_033380.3(COL4A5):c.1289C>A (p.Ala430Asp) rs142883891 0.00418
NM_033380.3(COL4A5):c.3808+7C>T rs371130625 0.00066
NM_033380.3(COL4A5):c.2979T>G (p.Pro993=) rs41306255 0.00024
NM_033380.3(COL4A5):c.2017A>G (p.Arg673Gly) rs200348997 0.00017
NM_033380.3(COL4A5):c.2692A>G (p.Met898Val) rs104886192 0.00017
NM_033380.3(COL4A5):c.4741G>T (p.Ala1581Ser) rs151130451 0.00009
NM_033380.3(COL4A5):c.3957G>T (p.Arg1319=) rs758920904 0.00008
NM_033380.3(COL4A5):c.89A>G (p.Tyr30Cys) rs150305490 0.00008
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_033380.3(COL4A5):c.348A>G (p.Pro116=) rs372839725 0.00005
NM_033380.3(COL4A5):c.4209C>T (p.Gly1403=) rs752953167 0.00005
NM_033380.3(COL4A5):c.2657C>G (p.Ala886Gly) rs367714441 0.00001
NM_033380.3(COL4A5):c.412G>A (p.Gly138Ser) rs767619131 0.00001
NM_033380.3(COL4A5):c.4216+7A>G rs376840709 0.00001
NM_033380.3(COL4A5):c.4525T>C (p.Leu1509=) rs1603323457 0.00001
NM_033380.3(COL4A5):c.*51A>T
NM_033380.3(COL4A5):c.-25_-8dup rs752443408
NM_033380.3(COL4A5):c.1063A>G (p.Ile355Val)
NM_033380.3(COL4A5):c.1226G>T (p.Gly409Val) rs104886101
NM_033380.3(COL4A5):c.1294G>C (p.Gly432Arg)
NM_033380.3(COL4A5):c.1762G>A (p.Gly588Ser)
NM_033380.3(COL4A5):c.1904G>A (p.Gly635Asp) rs281874683
NM_033380.3(COL4A5):c.1990A>T (p.Lys664Ter)
NM_033380.3(COL4A5):c.2315G>T (p.Gly772Val) rs104886173
NM_033380.3(COL4A5):c.2466ACCACCAGG[1] (p.823PPG[1]) rs104886356
NM_033380.3(COL4A5):c.2965_2982del (p.Asp989_Gly994del) rs104886374
NM_033380.3(COL4A5):c.3088G>A (p.Gly1030Ser) rs104886210
NM_033380.3(COL4A5):c.3116G>A (p.Gly1039Asp) rs1556421658
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser) rs104886228
NM_033380.3(COL4A5):c.4258C>G (p.Pro1420Ala)
NM_033380.3(COL4A5):c.4475G>T (p.Gly1492Val) rs104886282
NM_033380.3(COL4A5):c.465+2T>C rs2066070104
NM_033380.3(COL4A5):c.4705C>T (p.Arg1569Ter) rs104886286
NM_033380.3(COL4A5):c.4706+5G>T
NM_033380.3(COL4A5):c.4821G>A (p.Met1607Ile) rs104886300
NM_033380.3(COL4A5):c.4876T>A (p.Cys1626Ser) rs2068715609
NM_033380.3(COL4A5):c.835-2A>G rs1556406859
NM_033380.3(COL4A5):c.866G>T (p.Gly289Val) rs104886450
NM_033380.3(COL4A5):c.920G>A (p.Gly307Asp) rs104886082

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