ClinVar Miner

List of variants in gene COL4A5 reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 6
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HGVS dbSNP
GRCh38/hg38 Xq22.3(chrX:108447982-108538433)x3
NM_000495.5(COL4A5):c.-25_-8dup rs752443408
NM_000495.5(COL4A5):c.1043G>A (p.Arg348Lys) rs377663039
NM_000495.5(COL4A5):c.2180C>G (p.Pro727Arg) rs753005152
NM_000495.5(COL4A5):c.3496A>G (p.Lys1166Glu) rs1064794446
NM_000495.5(COL4A5):c.4634T>C (p.Met1545Thr) rs1057518146

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