List of variants reported as pathogenic for Brain small vessel disease 1 with or without ocular anomalies by OMIM

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001845.6(COL4A1):c.1685G>A (p.Gly562Glu)	rs121912857
NM_001845.6(COL4A1):c.1A>T (p.Met1Leu)	rs113994103
NM_001845.6(COL4A1):c.2085del (p.Gly696fs)	rs606231464
NM_001845.6(COL4A1):c.2122G>A (p.Gly708Arg)	rs672601349
NM_001845.6(COL4A1):c.2159G>A (p.Gly720Asp)	rs113994108
NM_001845.6(COL4A1):c.2194-1G>A	rs606231465
NM_001845.6(COL4A1):c.2245G>A (p.Gly749Ser)	rs113994109
NM_001845.6(COL4A1):c.2263G>A (p.Gly755Arg)	rs672601346
NM_001845.6(COL4A1):c.2317G>C (p.Gly773Arg)	rs672601347
NM_001845.6(COL4A1):c.3104G>T (p.Gly1035Val)	rs1555302922
NM_001845.6(COL4A1):c.3389G>A (p.Gly1130Asp)	rs113994111
NM_001845.6(COL4A1):c.3706G>A (p.Gly1236Arg)	rs113994112
NM_001845.6(COL4A1):c.3976G>A (p.Gly1326Arg)	rs587777379
NM_001845.6(COL4A1):c.4267G>C (p.Gly1423Arg)	rs113994113
NM_001845.6(COL4A1):c.4738G>C (p.Gly1580Arg)	rs113994114
NM_001845.6(COL4A1):c.4881C>G (p.Asn1627Lys)	rs672601348

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