ClinVar Miner

List of variants studied for Alport syndrome 1, X-linked recessive by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 7
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HGVS dbSNP
NM_033380.3(COL4A5):c.1033-15del rs104886089
NM_033380.3(COL4A5):c.2768-11A>G rs1006269
NM_033380.3(COL4A5):c.4618del (p.Asp1540fs) rs1603326561
NM_033380.3(COL4A5):c.4709G>C (p.Cys1570Ser) rs104886287
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg) rs104886303
NM_033380.3(COL4A5):c.609+21T>C rs6622333
NM_033380.3(COL4A5):c.875G>A (p.Gly292Glu) rs104886078

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