ClinVar Miner

List of variants in gene COL4A5 reported by Precision Medicine Center, Zhengzhou University

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_033380.3(COL4A5):c.3958C>T (p.Pro1320Ser) rs754836509 0.00013
NM_033380.3(COL4A5):c.1033-2A>G rs2147787964
NM_033380.3(COL4A5):c.1033-6A>G rs869025330
NM_033380.3(COL4A5):c.1480G>T (p.Gly494Cys) rs1569493662
NM_033380.3(COL4A5):c.1871G>T (p.Gly624Val) rs104886142
NM_033380.3(COL4A5):c.1930G>T (p.Gly644Cys) rs2147813821
NM_033380.3(COL4A5):c.2146G>A (p.Gly716Ser) rs104886161
NM_033380.3(COL4A5):c.2237G>A (p.Gly746Glu) rs867625069
NM_033380.3(COL4A5):c.2288G>A (p.Gly763Glu) rs281874689
NM_033380.3(COL4A5):c.2330G>C (p.Arg777Pro) rs200371339
NM_033380.3(COL4A5):c.2395+3A>G rs2147832635
NM_033380.3(COL4A5):c.2597G>A (p.Gly866Glu) rs104886188
NM_033380.3(COL4A5):c.322-1G>T rs104886375
NM_033380.3(COL4A5):c.3311G>A (p.Gly1104Asp) rs104886224
NM_033380.3(COL4A5):c.3659G>A (p.Gly1220Asp) rs104886251
NM_033380.3(COL4A5):c.3670G>T (p.Glu1224Ter) rs1290001124
NM_033380.3(COL4A5):c.3791G>T (p.Gly1264Val) rs2147963152
NM_033380.3(COL4A5):c.3817G>A (p.Gly1273Ser) rs2147974808
NM_033380.3(COL4A5):c.439-1G>A rs2147754967
NM_033380.3(COL4A5):c.4528G>C (p.Gly1510Arg) rs2147991725
NM_033380.3(COL4A5):c.4706+2T>C rs2147998807
NM_033380.3(COL4A5):c.476G>A (p.Gly159Asp) rs2147759208
NM_033380.3(COL4A5):c.4787G>A (p.Trp1596Ter) rs2148001657
NM_033380.3(COL4A5):c.4962G>A (p.Trp1654Ter) rs2068718016
NM_033380.3(COL4A5):c.4978_4979insAAAA (p.Val1660fs) rs2148002538
NM_033380.3(COL4A5):c.539G>A (p.Gly180Glu) rs2147759475
NM_033380.3(COL4A5):c.584G>A (p.Gly195Asp) rs104886061
NM_033380.3(COL4A5):c.670G>A (p.Gly224Arg) rs2147770608
NM_033380.3(COL4A5):c.687+1G>A rs104886440
NM_033380.3(COL4A5):c.891+5G>A rs2147776814
NM_033380.3(COL4A5):c.937G>T (p.Gly313Cys) rs104886084

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