ClinVar Miner

List of variants studied for Brain small vessel disease 1 with or without ocular anomalies by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001845.6(COL4A1):c.1837C>G (p.Pro613Ala) rs1432737813 0.00001
NM_001845.6(COL4A1):c.3742+1G>A rs2139156007

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