ClinVar Miner

List of variants in gene COL4A5 reported as likely pathogenic for Nephrotic syndrome

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_033380.3(COL4A5):c.2344_2345insG (p.Pro782fs) rs2066736944
NM_033380.3(COL4A5):c.3088G>A (p.Gly1030Ser) rs104886210
NM_033380.3(COL4A5):c.3722G>A (p.Gly1241Asp) rs281874721

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