List of variants reported as likely pathogenic for Alport syndrome by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000091.5(COL4A3):c.1381G>C (p.Gly461Arg)	rs1135401954
NM_000091.5(COL4A3):c.2135G>T (p.Gly712Val)	rs2071832975
NM_000091.5(COL4A3):c.3257G>A (p.Gly1086Glu)	rs1574813350
NM_000091.5(COL4A3):c.680G>A (p.Gly227Glu)	rs1574698507
NM_000091.5(COL4A3):c.880G>C (p.Gly294Arg)	rs2125936494
NM_000092.5(COL4A4):c.755G>C (p.Gly252Ala)
NM_033380.3(COL4A5):c.2713G>C (p.Gly905Arg)	rs140753501
NM_033380.3(COL4A5):c.3073_3081del (p.Leu1025_Gly1027del)
NM_033380.3(COL4A5):c.4598G>T (p.Cys1533Phe)

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