ClinVar Miner

List of variants in gene NBEAL2 reported as likely benign for Gray platelet syndrome

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_015175.3(NBEAL2):c.*219A>C rs1048808 0.01550
NM_015175.3(NBEAL2):c.3036C>T (p.Ser1012=) rs139218926 0.00526
NM_015175.3(NBEAL2):c.4485-8C>T rs145760682 0.00350
NM_015175.3(NBEAL2):c.5301+11C>T rs201354947 0.00303
NM_015175.3(NBEAL2):c.6866G>A (p.Arg2289Gln) rs181413143 0.00290
NM_015175.3(NBEAL2):c.5103C>T (p.Phe1701=) rs199537643 0.00260
NM_015175.3(NBEAL2):c.2376G>A (p.Arg792=) rs200489667 0.00230
NM_015175.3(NBEAL2):c.1038C>T (p.Tyr346=) rs201015016 0.00172
NM_015175.3(NBEAL2):c.3384+5G>A rs370559049 0.00156
NM_015175.3(NBEAL2):c.7602+10G>A rs201513299 0.00124
NM_015175.3(NBEAL2):c.1600C>T (p.Arg534Cys) rs202209383 0.00102
NM_015175.3(NBEAL2):c.3338C>T (p.Thr1113Met) rs202071400 0.00086
NM_015175.3(NBEAL2):c.5662C>G (p.Pro1888Ala) rs200641534 0.00019
NM_015175.3(NBEAL2):c.4669C>G (p.Leu1557Val) rs534419583 0.00007
NM_015175.3(NBEAL2):c.4978C>T (p.Arg1660Cys) rs142355538 0.00006
NM_015175.3(NBEAL2):c.*65A>G rs538014431 0.00001

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