ClinVar Miner

List of variants reported as uncertain significance for Gray platelet syndrome by Baylor Genetics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_015175.3(NBEAL2):c.3529G>A (p.Asp1177Asn) rs746255435 0.00002
NM_015175.3(NBEAL2):c.1156A>G (p.Arg386Gly) rs187629020 0.00001
NM_015175.3(NBEAL2):c.3544-16G>A rs757281502 0.00001
NM_015175.3(NBEAL2):c.4526A>G (p.Lys1509Arg) rs2036970287

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