List of variants reported as pathogenic for X-linked Alport syndrome by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 6

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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.1117C>T (p.Arg373Ter)	rs104886094
NM_033380.3(COL4A5):c.1376dup (p.Gly460fs)	rs104886113
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg)	rs104886189
NM_033380.3(COL4A5):c.385G>A (p.Gly129Arg)	rs281874722
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg)	rs104886303

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