ClinVar Miner

List of variants reported as not provided for Brain small vessel disease 1 with or without ocular anomalies

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001845.6(COL4A1):c.1769G>A (p.Gly590Glu) rs113994107
NM_001845.6(COL4A1):c.1A>T (p.Met1Leu) rs113994103
NM_001845.6(COL4A1):c.2159G>A (p.Gly720Asp) rs113994108
NM_001845.6(COL4A1):c.2245G>A (p.Gly749Ser) rs113994109
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.4267G>C (p.Gly1423Arg) rs113994113
NM_001845.6(COL4A1):c.4738G>C (p.Gly1580Arg) rs113994114

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