List of variants studied for Brain small vessel disease 1 with or without ocular anomalies by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr)	rs751749989	0.00048
NM_001845.6(COL4A1):c.144+1G>A	rs2139245731
NM_001845.6(COL4A1):c.2153_2154dup (p.Asn719fs)
NM_001845.6(COL4A1):c.2627-1G>A	rs1064796811
NM_001845.6(COL4A1):c.2959G>A (p.Gly987Arg)	rs1566351456
NM_001845.6(COL4A1):c.3397G>A (p.Gly1133Arg)
NM_001845.6(COL4A1):c.3556+4A>G
NM_001845.6(COL4A1):c.3698G>A (p.Gly1233Glu)	rs1348341976
NM_001845.6(COL4A1):c.3770G>A (p.Gly1257Glu)	rs1877518903
NM_001845.6(COL4A1):c.388-1G>C	rs766209938
NM_001845.6(COL4A1):c.4981C>T (p.Arg1661Cys)	rs1555300086

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