List of variants reported as likely pathogenic for X-linked Alport syndrome by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_033380.3(COL4A5):c.1480G>C (p.Gly494Arg)	rs1569493662
NM_033380.3(COL4A5):c.1640del (p.Pro547fs)
NM_033380.3(COL4A5):c.2396-1G>A	rs886041509
NM_033380.3(COL4A5):c.2980G>A (p.Gly994Arg)
NM_033380.3(COL4A5):c.382A>T (p.Lys128Ter)
NM_033380.3(COL4A5):c.3850G>T (p.Gly1284Ter)	rs2147974914
NM_033380.3(COL4A5):c.438+2T>C	rs281874738
NM_033380.3(COL4A5):c.4788G>A (p.Trp1596Ter)	rs2148001666
NM_033380.3(COL4A5):c.496del (p.Leu166fs)

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