ClinVar Miner

List of variants in gene combination COL4A3, LOC129935730 reported as uncertain significance for Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.25C>T (p.Pro9Ser) rs890999119 0.00009
NM_000091.5(COL4A3):c.11G>A (p.Arg4Gln) rs921905047 0.00007
NM_000091.5(COL4A3):c.44C>G (p.Pro15Arg) rs1260966222 0.00001

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