ClinVar Miner

List of variants reported as pathogenic for Benign familial hematuria by Genetic Diagnostic Laboratory, University of Szeged

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000092.5(COL4A4):c.2986G>A (p.Gly996Arg) rs370474706 0.00004
NM_000091.5(COL4A3):c.3410G>A (p.Gly1137Asp) rs869025327
NM_000091.5(COL4A3):c.765+2T>C rs869025326
NM_000091.5(COL4A3):c.765G>T (p.Thr255=) rs869025328
NM_000092.5(COL4A4):c.1100-2A>C rs869025329

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