ClinVar Miner

List of variants reported as uncertain significance by Royal Brompton Clinical Genetics And Genomics Laboratory, NHS South East Genomic Laboratory Hub

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000393.5(COL5A2):c.3422A>C (p.Gln1141Pro) rs144890303 0.00002
NM_000093.5(COL5A1):c.1209G>T (p.Glu403Asp) rs1564417691
NM_000238.4(KCNH2):c.243G>C (p.Gln81His) rs199472849
NM_005902.4(SMAD3):c.728G>A (p.Arg243His) rs863223736

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