ClinVar Miner

List of variants in gene COL4A5 reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_033380.3(COL4A5):c.3513A>G (p.Gln1171=) rs2273051 0.14310
NM_033380.3(COL4A5):c.2349G>A (p.Pro783=) rs3747408 0.11046
NM_033380.3(COL4A5):c.1331T>G (p.Ile444Ser) rs2272946 0.11020
NM_033380.3(COL4A5):c.2055T>C (p.Leu685=) rs7884085 0.10905
NM_033380.3(COL4A5):c.1095G>C (p.Gly365=) rs2272945 0.10302
NM_033380.3(COL4A5):c.4293C>T (p.Asp1431=) rs61746140 0.10149
NM_033380.3(COL4A5):c.2768-11A>G rs1006269 0.09324
NM_033380.3(COL4A5):c.3519T>G (p.Gly1173=) rs61735627 0.03239
NM_033380.3(COL4A5):c.4500A>G (p.Gly1500=) rs145378707 0.00920
NM_033380.3(COL4A5):c.1992G>T (p.Lys664Asn) rs34077552 0.00745
NM_033380.3(COL4A5):c.1289C>A (p.Ala430Asp) rs142883891 0.00418
NM_033380.3(COL4A5):c.909T>C (p.Asp303=) rs144586397 0.00122
NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val) rs78972735 0.00119
NM_033380.3(COL4A5):c.4353A>T (p.Gly1451=) rs146884759 0.00028
NM_033380.3(COL4A5):c.2979T>G (p.Pro993=) rs41306255 0.00024
NM_033380.3(COL4A5):c.2286A>G (p.Pro762=) rs369726425 0.00008
NM_033380.3(COL4A5):c.2604C>T (p.Pro868=) rs781337825 0.00003
NM_033380.3(COL4A5):c.2865G>A (p.Met955Ile) rs1350078739 0.00001
NM_033380.3(COL4A5):c.1559C>T (p.Ala520Val) rs2066528784
NM_033380.3(COL4A5):c.2109C>T (p.Ile703=) rs369092053
NM_033380.3(COL4A5):c.2537G>A (p.Gly846Glu) rs1569497690
NM_033380.3(COL4A5):c.406A>G (p.Ser136Gly) rs768580195
NM_033380.3(COL4A5):c.40T>G (p.Leu14Val) rs760570519

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