ClinVar Miner

List of variants reported as pathogenic for Gray platelet syndrome by OMIM

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_015175.3(NBEAL2):c.1163T>C (p.Leu388Pro) rs387907113
NM_015175.3(NBEAL2):c.1823G>A (p.Trp608Ter) rs794726682
NM_015175.3(NBEAL2):c.1928A>T (p.Glu643Val) rs387907114
NM_015175.3(NBEAL2):c.2701C>T (p.Arg901Ter) rs387907112
NM_015175.3(NBEAL2):c.5413dup (p.Ala1805fs) rs794726683
NM_015175.3(NBEAL2):c.6299C>T (p.Pro2100Leu) rs387907115
NM_015175.3(NBEAL2):c.881C>G (p.Ser294Ter) rs372277612

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