ClinVar Miner

List of variants in gene COL4A5 reported as uncertain significance for Alport syndrome 1, X-linked recessive

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Total variants: 26
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HGVS dbSNP
NM_000495.5(COL4A5):c.*48_*49insAT rs1556464307
NM_000495.5(COL4A5):c.1499G>T (p.Gly500Val) rs1569493670
NM_000495.5(COL4A5):c.1520C>A (p.Ser507Tyr) rs1114167369
NM_000495.5(COL4A5):c.1683A>T (p.Gly561=) rs1569494020
NM_000495.5(COL4A5):c.1969C>A (p.Gln657Lys) rs1569494866
NM_000495.5(COL4A5):c.2145A>G (p.Lys715=) rs1569495067
NM_000495.5(COL4A5):c.2215C>G (p.Pro739Ala)
NM_000495.5(COL4A5):c.2245-14T>A rs1569495752
NM_000495.5(COL4A5):c.236A>T (p.Asp79Val) rs775277548
NM_000495.5(COL4A5):c.2510-33A>G rs104886358
NM_000495.5(COL4A5):c.262C>T (p.Pro88Ser)
NM_000495.5(COL4A5):c.2692A>G (p.Met898Val) rs104886192
NM_000495.5(COL4A5):c.2858G>T (p.Gly953Val) rs78972735
NM_000495.5(COL4A5):c.3148C>G (p.Pro1050Ala) rs143945573
NM_000495.5(COL4A5):c.3455-8T>G rs1569505503
NM_000495.5(COL4A5):c.4054C>A (p.Leu1352Ile)
NM_000495.5(COL4A5):c.4228C>T (p.Arg1410Cys) rs104886270
NM_000495.5(COL4A5):c.4396C>T (p.Arg1466Cys)
NM_000495.5(COL4A5):c.4532G>A (p.Arg1511His) rs104886285
NM_000495.5(COL4A5):c.4549C>A (p.Pro1517Thr) rs201220208
NM_000495.5(COL4A5):c.4568T>C (p.Ile1523Thr) rs749580257
NM_000495.5(COL4A5):c.466-17T>G rs104886415
NM_000495.5(COL4A5):c.4688+4A>C rs1569508999
NM_000495.5(COL4A5):c.4877C>T (p.Ser1626Leu) rs1556463567
NM_000495.5(COL4A5):c.488T>C (p.Met163Thr) rs142503631
NM_000495.5(COL4A5):c.4976+3A>G rs1569509373

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