ClinVar Miner

List of variants studied for Brain small vessel disease 1 with or without ocular anomalies by MGZ Medical Genetics Center

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001845.6(COL4A1):c.2143C>T (p.Arg715Cys)	rs867967840
NM_001845.6(COL4A1):c.2494G>A (p.Gly832Arg)	rs797044867
NM_001845.6(COL4A1):c.364A>C (p.Ile122Leu)	rs2501603225
NM_001845.6(COL4A1):c.4433G>A (p.Gly1478Asp)	rs2501738179

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