List of variants reported as pathogenic for X-linked Alport syndrome by Revvity Omics, Revvity

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_033380.3(COL4A5):c.1276G>A (p.Gly426Arg)	rs104886111	0.00001
NM_033380.3(COL4A5):c.2087G>A (p.Gly696Asp)	rs2147820991
NM_033380.3(COL4A5):c.3721G>T (p.Gly1241Cys)	rs104886255
NM_033380.3(COL4A5):c.4055del (p.Pro1352fs)	rs2147980448
NM_033380.3(COL4A5):c.866G>A (p.Gly289Asp)	rs104886450

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