ClinVar Miner

List of variants reported as pathogenic for Brain small vessel disease 1 with or without ocular anomalies by 3billion, Medical Genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001845.6(COL4A1):c.2317G>A (p.Gly773Arg)	rs672601347
NM_001845.6(COL4A1):c.388-1G>C	rs766209938
NM_001845.6(COL4A1):c.4250-1G>A	rs2139146298

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