ClinVar Miner

List of variants in gene COL4A5 reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 15
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HGVS dbSNP
NM_000495.5(COL4A5):c.1331T>G (p.Ile444Ser) rs2272946
NM_000495.5(COL4A5):c.1844G>A (p.Gly615Glu) rs794727397
NM_000495.5(COL4A5):c.2055T>C (p.Leu685=) rs7884085
NM_000495.5(COL4A5):c.2215C>G (p.Pro739Ala)
NM_000495.5(COL4A5):c.2295A>G (p.Pro765=) rs141247183
NM_000495.5(COL4A5):c.2768-11A>G rs1006269
NM_000495.5(COL4A5):c.2858G>T (p.Gly953Val) rs78972735
NM_000495.5(COL4A5):c.3023A>G (p.Lys1008Arg) rs142929745
NM_000495.5(COL4A5):c.3148C>T (p.Pro1050Ser) rs143945573
NM_000495.5(COL4A5):c.3296C>T (p.Ser1099Phe) rs767087695
NM_000495.5(COL4A5):c.3527G>A (p.Gly1176Glu) rs886042570
NM_000495.5(COL4A5):c.3787C>T (p.Pro1263Ser) rs1012489715
NM_000495.5(COL4A5):c.645+2T>C rs1569490387
NM_000495.5(COL4A5):c.858T>C (p.Gly286=) rs183837448
NM_000495.5(COL4A5):c.89A>G (p.Tyr30Cys) rs150305490

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