ClinVar Miner

List of variants studied for Brain small vessel disease 1 with or without ocular anomalies by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001845.6(COL4A1):c.1739G>A (p.Gly580Glu)
NM_001845.6(COL4A1):c.3208G>A (p.Gly1070Arg) rs1057523325
NM_001845.6(COL4A1):c.3297A>C (p.Lys1099Asn)
NM_001845.6(COL4A1):c.3358A>G (p.Lys1120Glu) rs1566349683
NM_001845.6(COL4A1):c.3526C>T (p.Pro1176Ser)

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