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: 5
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HGVS dbSNP gnomAD frequency
NM_001845.6(COL4A1):c.173G>A (p.Gly58Asp) rs2501607993
NM_001845.6(COL4A1):c.2008G>A (p.Gly670Arg) rs1878248687
NM_001845.6(COL4A1):c.2143_2149del (p.Arg715fs)
NM_001845.6(COL4A1):c.2870G>C (p.Gly957Ala) rs2139162781
NM_001845.6(COL4A1):c.781G>A (p.Gly261Ser) rs2501584950

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