ClinVar Miner

List of variants studied for Autosomal dominant Alport syndrome by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.1594G>T (p.Gly532Cys) rs779575469 0.00001
NM_000091.5(COL4A3):c.2323_2340del (p.772LPG[1]) rs1306992119

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