ClinVar Miner

List of variants studied for Congenital stationary night blindness by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000843.4(GRM6):c.2041C>T (p.Gln681Ter) rs769355168 0.00001
NC_000017.11:g.38339517_38339521delinsGTAGATCA rs886043488
NM_000843.4(GRM6):c.2213_2219del (p.Ala738fs) rs770025079
NM_001004334.4(GPR179):c.2706_2707dup (p.Pro903fs) rs1200683561
NM_001004334.4(GPR179):c.984del (p.Ser329fs) rs770066665

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