List of variants reported as likely pathogenic for Autosomal dominant Alport syndrome; Benign familial hematuria by Medical Genetics, University of Parma

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000092.5(COL4A4):c.3044G>A (p.Gly1015Glu)	rs764323652	0.00008
NM_000091.5(COL4A3):c.2207G>T (p.Gly736Val)	rs773317939
NM_000091.5(COL4A3):c.4045G>A (p.Gly1349Ser)	rs2073401281
NM_000092.5(COL4A4):c.1192_1195dup (p.Ala399fs)	rs2060340440
NM_000092.5(COL4A4):c.1580del (p.Gly527fs)	rs2059732983
NM_000092.5(COL4A4):c.836G>A (p.Gly279Glu)	rs2060622881

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