ClinVar Miner

List of variants studied for Brain small vessel disease 1 with or without ocular anomalies by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001845.6(COL4A1):c.904-9C>T rs201481886 0.00116
NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr) rs751749989 0.00048
NM_001845.6(COL4A1):c.1729G>C (p.Gly577Arg) rs752009614 0.00002
NM_001845.6(COL4A1):c.1081A>C (p.Lys361Gln) rs1879231791
NM_001845.6(COL4A1):c.1789C>T (p.Arg597Cys) rs767374916
NM_001845.6(COL4A1):c.2083C>G (p.Pro695Ala) rs1878244032
NM_001845.6(COL4A1):c.446C>G (p.Pro149Arg) rs1879801583

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