ClinVar Miner

List of variants reported as likely pathogenic for Autosomal dominant Alport syndrome by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000091.5(COL4A3):c.1408+2T>A
NM_000091.5(COL4A3):c.2135G>T (p.Gly712Val)	rs2071832975
NM_000091.5(COL4A3):c.880G>C (p.Gly294Arg)	rs2125936494

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