ClinVar Miner

List of variants in gene COL4A5 reported by Sydney Genome Diagnostics, Children's Hospital Westmead

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Gene type:
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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln) rs104886308 0.00002
NM_033380.3(COL4A5):c.2329C>T (p.Arg777Cys) rs779033931 0.00001
NM_033380.3(COL4A5):c.1033-3A>G rs2066339277
NM_033380.3(COL4A5):c.1166-1G>A rs1569492951
NM_033380.3(COL4A5):c.1226G>A (p.Gly409Asp) rs104886101
NM_033380.3(COL4A5):c.1498G>C (p.Gly500Arg) rs281874670
NM_033380.3(COL4A5):c.1525G>C (p.Gly509Arg) rs754223700
NM_033380.3(COL4A5):c.1532del (p.Pro511fs) rs2066528020
NM_033380.3(COL4A5):c.1643G>A (p.Gly548Asp) rs281874673
NM_033380.3(COL4A5):c.1763_1779+3del rs2066542728
NM_033380.3(COL4A5):c.1807G>A (p.Gly603Ser) rs1603290681
NM_033380.3(COL4A5):c.1815del (p.Asn607fs) rs2066568818
NM_033380.3(COL4A5):c.1922G>A (p.Gly641Glu) rs1569494378
NM_033380.3(COL4A5):c.2042-2A>C rs2066636714
NM_033380.3(COL4A5):c.2129G>A (p.Gly710Glu) rs2066640120
NM_033380.3(COL4A5):c.2201del (p.Gly734fs) rs2066663117
NM_033380.3(COL4A5):c.2344_2345insG (p.Pro782fs) rs2066736944
NM_033380.3(COL4A5):c.2387G>A (p.Gly796Glu) rs1569495819
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg) rs104886189
NM_033380.3(COL4A5):c.2633G>A (p.Gly878Glu) rs104886199
NM_033380.3(COL4A5):c.2678G>C (p.Gly893Ala) rs397515496
NM_033380.3(COL4A5):c.2686G>A (p.Gly896Ser) rs1556420349
NM_033380.3(COL4A5):c.276+2dup rs2065934135
NM_033380.3(COL4A5):c.3262C>T (p.Pro1088Ser) rs2067818149
NM_033380.3(COL4A5):c.3310G>C (p.Gly1104Arg) rs1569504072
NM_033380.3(COL4A5):c.3374-1G>A rs2068058963
NM_033380.3(COL4A5):c.3556C>T (p.Gln1186Ter) rs1381117009
NM_033380.3(COL4A5):c.3632G>A (p.Gly1211Glu) rs104886247
NM_033380.3(COL4A5):c.3883C>T (p.Gln1295Ter) rs2068330799
NM_033380.3(COL4A5):c.3942+2T>C rs2068333361
NM_033380.3(COL4A5):c.4291_4297delinsCT (p.Asp1431fs) rs2068539903
NM_033380.3(COL4A5):c.434C>T (p.Pro145Leu) rs2066063898
NM_033380.3(COL4A5):c.4376dup (p.Gly1460fs) rs2068571470
NM_033380.3(COL4A5):c.438+1_438+3dup rs2066064057
NM_033380.3(COL4A5):c.4529-11A>G rs2068656107
NM_033380.3(COL4A5):c.4705C>T (p.Arg1569Ter) rs104886286
NM_033380.3(COL4A5):c.4769C>A (p.Pro1590His) rs281874747
NM_033380.3(COL4A5):c.5074T>A (p.Ter1692Lys) rs2068734296
NM_033380.3(COL4A5):c.687+1G>A rs104886440
NM_033380.3(COL4A5):c.757delinsCT (p.Val253fs) rs2066189282
NM_033380.3(COL4A5):c.796C>T (p.Arg266Ter) rs104886071
NM_033380.3(COL4A5):c.884G>A (p.Gly295Asp) rs104886079

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