ClinVar Miner

List of variants reported as benign for Brain small vessel disease 1 with or without ocular anomalies by Genome-Nilou Lab

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001845.6(COL4A1):c.616-11G>C rs645114 0.84459
NM_001845.6(COL4A1):c.3877-9C>T rs589985 0.63996
NM_001845.6(COL4A1):c.859-10T>C rs677877 0.57082
NM_001845.6(COL4A1):c.903+18G>A rs482757 0.56804
NM_001845.6(COL4A1):c.780+7G>A rs598893 0.56762
NM_001845.6(COL4A1):c.432T>A (p.Ala144=) rs532625 0.42890
NM_001845.6(COL4A1):c.19G>C (p.Val7Leu) rs9515185 0.36168
NM_001845.6(COL4A1):c.4470C>T (p.Ala1490=) rs1133219 0.35362
NM_001845.6(COL4A1):c.4150+38C>G rs1816884 0.33505
NM_001845.6(COL4A1):c.4002A>C (p.Gln1334His) rs3742207

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