List of variants reported as likely pathogenic for Alport syndrome by Sydney Genome Diagnostics, Children's Hospital Westmead

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg)	rs569681869	0.00004
NM_000092.5(COL4A4):c.2752G>A (p.Gly918Arg)	rs372606845	0.00002
NM_000091.5(COL4A3):c.1468G>C (p.Gly490Arg)	rs1256505387	0.00001
NM_000091.5(COL4A3):c.3472G>C (p.Gly1158Arg)	rs914878176	0.00001
NM_000092.5(COL4A4):c.81_86del (p.27IL[1])	rs771943519
NM_033380.3(COL4A5):c.1498G>C (p.Gly500Arg)	rs281874670
NM_033380.3(COL4A5):c.1525G>C (p.Gly509Arg)	rs754223700
NM_033380.3(COL4A5):c.1532del (p.Pro511fs)	rs2066528020
NM_033380.3(COL4A5):c.1922G>A (p.Gly641Glu)	rs1569494378
NM_033380.3(COL4A5):c.2042-2A>C	rs2066636714
NM_033380.3(COL4A5):c.2129G>A (p.Gly710Glu)	rs2066640120
NM_033380.3(COL4A5):c.2633G>A (p.Gly878Glu)	rs104886199
NM_033380.3(COL4A5):c.276+2dup	rs2065934135
NM_033380.3(COL4A5):c.4291_4297delinsCT (p.Asp1431fs)	rs2068539903
NM_033380.3(COL4A5):c.438+1_438+3dup	rs2066064057
NM_033380.3(COL4A5):c.884G>A (p.Gly295Asp)	rs104886079

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