ClinVar Miner

List of variants reported as pathogenic for X-linked Alport syndrome by Eurofins-Biomnis

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_033380.3(COL4A5):c.1562G>A (p.Gly521Asp)	rs104886122
NM_033380.3(COL4A5):c.160G>C (p.Gly54Arg)
NM_033380.3(COL4A5):c.82-1G>A

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