ClinVar Miner

List of variants in gene COL4A5 reported by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Total variants: 9
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HGVS dbSNP
NM_000495.4(COL4A5):c.1095G>C (p.Gly365=) rs2272945
NM_000495.4(COL4A5):c.1331T>G (p.Ile444Ser) rs2272946
NM_000495.4(COL4A5):c.2055T>C (p.Leu685=) rs7884085
NM_000495.4(COL4A5):c.2349G>A (p.Pro783=) rs3747408
NM_000495.4(COL4A5):c.2768-11A>G rs1006269
NM_000495.4(COL4A5):c.2858G>T (p.Gly953Val) rs78972735
NM_000495.4(COL4A5):c.3513A>G (p.Gln1171=) rs2273051
NM_000495.4(COL4A5):c.4275C>T (p.Asp1425=) rs61746140
NM_033380.2(COL4A5):c.909T>C (p.Asp303=) rs144586397

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