ClinVar Miner

List of variants in gene COL4A5 reported as uncertain significance by Athena Diagnostics Inc

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Gene type:
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Total variants: 10
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HGVS dbSNP
NM_000495.5(COL4A5):c.1032+5G>A rs104886315
NM_000495.5(COL4A5):c.1032+5G>T rs104886315
NM_000495.5(COL4A5):c.2019A>T (p.Arg673Ser) rs1569494902
NM_000495.5(COL4A5):c.2509+5G>C rs1556418297
NM_000495.5(COL4A5):c.3787C>T (p.Pro1263Ser) rs1012489715
NM_000495.5(COL4A5):c.3940C>T (p.Pro1314Ser) rs754836509
NM_000495.5(COL4A5):c.465+2_465+3dup rs1569488954
NM_000495.5(COL4A5):c.466-13T>A rs1569489302
NM_000495.5(COL4A5):c.4708C>G (p.Pro1570Ala)
NM_000495.5(COL4A5):c.81G>A (p.Ala27=) rs1569469478

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