List of variants reported as pathogenic for Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000091.5(COL4A3):c.4825C>T (p.Arg1609Ter)	rs756231749	0.00003
NM_000091.5(COL4A3):c.391G>T (p.Glu131Ter)	rs1346138010	0.00002
NM_000091.5(COL4A3):c.2371C>T (p.Arg791Ter)	rs1060499654	0.00001
NM_000091.5(COL4A3):c.3464G>A (p.Gly1155Asp)	rs2106235905	0.00001
NM_000091.5(COL4A3):c.1006G>T (p.Gly336Cys)	rs1559873550
NM_000091.5(COL4A3):c.1219G>C (p.Gly407Arg)	rs1559878862
NM_000091.5(COL4A3):c.2330G>T (p.Gly777Val)	rs2106151987
NM_000091.5(COL4A3):c.2916_2917del (p.Gly973fs)	rs1559904445
NM_000091.5(COL4A3):c.3620G>A (p.Gly1207Glu)	rs1553764136
NM_000091.5(COL4A3):c.4347_4353del (p.Arg1450fs)	rs748026887
NM_000091.5(COL4A3):c.92_95dup (p.Lys34fs)	rs1385106410

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