ClinVar Miner

List of variants in gene COL4A5 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 16
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HGVS dbSNP
NM_000495.5(COL4A5):c.1032+17del rs761615270
NM_000495.5(COL4A5):c.1033-15del rs104886089
NM_000495.5(COL4A5):c.1095G>C (p.Gly365=) rs2272945
NM_000495.5(COL4A5):c.1331T>G (p.Ile444Ser) rs2272946
NM_000495.5(COL4A5):c.1588-13T>G rs201708502
NM_000495.5(COL4A5):c.2055T>C (p.Leu685=) rs7884085
NM_000495.5(COL4A5):c.2349G>A (p.Pro783=) rs3747408
NM_000495.5(COL4A5):c.2696G>A (p.Gly899Asp) rs281874702
NM_000495.5(COL4A5):c.2768-11A>G rs1006269
NM_000495.5(COL4A5):c.2821G>C (p.Gly941Arg) rs104886196
NM_000495.5(COL4A5):c.3257G>T (p.Gly1086Val) rs104886232
NM_000495.5(COL4A5):c.3513A>G (p.Gln1171=) rs2273051
NM_000495.5(COL4A5):c.609+21T>C rs6622333
NM_000495.5(COL4A5):c.619G>C (p.Gly207Arg) rs1569490379
NM_000495.5(COL4A5):c.800G>T (p.Gly267Val) rs1556406775
NM_000495.5(COL4A5):c.902G>A (p.Gly301Asp) rs1569491075

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