ClinVar Miner

List of variants in gene NBEAL2 reported as uncertain significance for Abnormal bleeding; Thrombocytopenia

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_015175.3(NBEAL2):c.6866G>A (p.Arg2289Gln) rs181413143 0.00289
NM_015175.3(NBEAL2):c.5021G>A (p.Arg1674His) rs200622688 0.00088
NM_015175.3(NBEAL2):c.2375G>A (p.Arg792Gln) rs140354422 0.00061
NM_015175.3(NBEAL2):c.5866G>A (p.Val1956Met) rs373495718 0.00004
NM_015175.3(NBEAL2):c.3184G>A (p.Val1062Ile) rs775313250 0.00003

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