List of variants reported as likely pathogenic for Alport syndrome by Centogene AG - the Rare Disease Company

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000091.5(COL4A3):c.305del (p.Ser102fs)	rs2069242131
NM_000092.5(COL4A4):c.594+1G>A	rs1553690565
NM_033380.3(COL4A5):c.3106+1G>A	rs2147872358
NM_033380.3(COL4A5):c.3508G>C (p.Gly1170Arg)	rs104886237
NM_033380.3(COL4A5):c.3554-2A>G	rs2147956337

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