ClinVar Miner

List of variants studied for Brain small vessel disease 1 with or without ocular anomalies by 3billion, Medical Genetics

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001845.6(COL4A1):c.2317G>A (p.Gly773Arg) rs672601347
NM_001845.6(COL4A1):c.2924G>A (p.Gly975Glu) rs2139162708
NM_001845.6(COL4A1):c.2947_2964dup (p.Ala983_Gln988dup) rs2139162654
NM_001845.6(COL4A1):c.3607C>T (p.Pro1203Ser)
NM_001845.6(COL4A1):c.388-1G>C rs766209938
NM_001845.6(COL4A1):c.4022-1G>A rs2139149392
NM_001845.6(COL4A1):c.4250-1G>A rs2139146298
NM_001845.6(COL4A1):c.4463G>T (p.Gly1488Val)
NM_001845.6(COL4A1):c.4660C>A (p.Pro1554Thr)

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