List of variants studied for Brain small vessel disease 1 with or without ocular anomalies by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001845.6(COL4A1):c.1670G>C (p.Arg557Thr)	rs781701789	0.00001
NM_001845.6(COL4A1):c.647A>G (p.Glu216Gly)	rs1436113098	0.00001
NM_001845.6(COL4A1):c.1801G>A (p.Gly601Ser)	rs1064794777
NM_001845.6(COL4A1):c.2317G>A (p.Gly773Arg)	rs672601347
NM_001845.6(COL4A1):c.4178G>A (p.Gly1393Glu)	rs2501741661

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