ClinVar Miner

List of variants reported as pathogenic for X-linked Alport syndrome by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)	rs104886142	0.00005
NM_033380.3(COL4A5):c.1033-1G>A	rs2066339336

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