ClinVar Miner

List of variants studied for Brain small vessel disease 1 with or without ocular anomalies by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001845.6(COL4A1):c.173G>A (p.Gly58Asp)
NM_001845.6(COL4A1):c.2008G>A (p.Gly670Arg) rs1878248687
NM_001845.6(COL4A1):c.2870G>C (p.Gly957Ala)
NM_001845.6(COL4A1):c.781G>A (p.Gly261Ser)

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