ClinVar Miner

List of variants studied for Brain small vessel disease 1 with or without ocular anomalies by Centogene AG - the Rare Disease Company

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001845.6(COL4A1):c.2036G>T (p.Gly679Val) rs2139169535
NM_001845.6(COL4A1):c.2290G>A (p.Gly764Ser) rs2139165584
NM_001845.6(COL4A1):c.2472A>G (p.Ile824Met)
NM_001845.6(COL4A1):c.2788G>A (p.Gly930Ser) rs2139163058

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