ClinVar Miner

List of variants reported as pathogenic for Brain small vessel disease 1 with or without ocular anomalies by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001845.6(COL4A1):c.2153_2154dup (p.Asn719fs)
NM_001845.6(COL4A1):c.2959G>A (p.Gly987Arg)	rs1566351456
NM_001845.6(COL4A1):c.388-1G>C	rs766209938

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