ClinVar Miner

List of variants studied for Alport syndrome 1, X-linked recessive by Victorian Clinical Genetics Services,Murdoch Childrens Research Institute

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Total variants: 11
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NM_033380.3(COL4A5):c.1225G>A (p.Gly409Ser)
NM_033380.3(COL4A5):c.1690G>T (p.Gly564Cys) rs281874674
NM_033380.3(COL4A5):c.2333G>A (p.Gly778Asp)
NM_033380.3(COL4A5):c.2473G>A (p.Gly825Arg)
NM_033380.3(COL4A5):c.295G>A (p.Gly99Arg)
NM_033380.3(COL4A5):c.3685G>A (p.Gly1229Ser) rs1569505771
NM_033380.3(COL4A5):c.3704G>T (p.Gly1235Val)
NM_033380.3(COL4A5):c.4119_4126del (p.Gln1373fs)
NM_033380.3(COL4A5):c.4931G>A (p.Cys1644Tyr) rs104886302
NM_033380.3(COL4A5):c.4938C>G (p.Tyr1646Ter)
NM_033380.3(COL4A5):c.659T>A (p.Leu220Ter)

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