ClinVar Miner

List of variants studied for Brain small vessel disease 1 with or without ocular anomalies by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001845.6(COL4A1):c.3016C>T (p.Leu1006Phe) rs1877889898 0.00001
NM_001845.6(COL4A1):c.2245G>A (p.Gly749Ser) rs113994109

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