ClinVar Miner

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

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Total variants: 21
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HGVS dbSNP
NM_000495.5(COL4A5):c.3519T>G (p.Gly1173=) rs61735627
NM_033380.3(COL4A5):c.1095G>C (p.Gly365=) rs2272945
NM_033380.3(COL4A5):c.1289C>A (p.Ala430Asp) rs142883891
NM_033380.3(COL4A5):c.1331T>G (p.Ile444Ser) rs2272946
NM_033380.3(COL4A5):c.1992G>T (p.Lys664Asn) rs34077552
NM_033380.3(COL4A5):c.2055T>C (p.Leu685=) rs7884085
NM_033380.3(COL4A5):c.2109C>T (p.Ile703=) rs369092053
NM_033380.3(COL4A5):c.2286A>G (p.Pro762=)
NM_033380.3(COL4A5):c.2349G>A (p.Pro783=) rs3747408
NM_033380.3(COL4A5):c.2537G>A (p.Gly846Glu) rs1569497690
NM_033380.3(COL4A5):c.2604C>T (p.Pro868=)
NM_033380.3(COL4A5):c.2768-11A>G rs1006269
NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val) rs78972735
NM_033380.3(COL4A5):c.2865G>A (p.Met955Ile) rs1350078739
NM_033380.3(COL4A5):c.3513A>G (p.Gln1171=) rs2273051
NM_033380.3(COL4A5):c.406A>G (p.Ser136Gly) rs768580195
NM_033380.3(COL4A5):c.40T>G (p.Leu14Val)
NM_033380.3(COL4A5):c.4293C>T (p.Asp1431=) rs61746140
NM_033380.3(COL4A5):c.4353A>T (p.Gly1451=) rs146884759
NM_033380.3(COL4A5):c.4500A>G (p.Gly1500=) rs145378707
NM_033380.3(COL4A5):c.909T>C (p.Asp303=) rs144586397

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