ClinVar Miner

List of variants in gene NBEAL2 reported as likely benign by Invitae

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Total variants: 20
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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.3384+5G>A rs370559049 0.00156
NM_015175.3(NBEAL2):c.1634C>T (p.Ser545Leu) rs201749187 0.00151
NM_015175.3(NBEAL2):c.3338C>T (p.Thr1113Met) rs202071400 0.00133
NM_015175.3(NBEAL2):c.872G>A (p.Gly291Asp) rs200121105 0.00118
NM_015175.3(NBEAL2):c.1600C>T (p.Arg534Cys) rs202209383 0.00102
NM_015175.3(NBEAL2):c.7589G>A (p.Arg2530Gln) rs116247493 0.00075
NM_015175.3(NBEAL2):c.4029T>C (p.Asp1343=) rs369906164 0.00073
NM_015175.3(NBEAL2):c.1635G>A (p.Ser545=) rs371768924 0.00053
NM_015175.3(NBEAL2):c.1392C>T (p.Thr464=) rs373760839 0.00048
NM_015175.3(NBEAL2):c.5769G>A (p.Ser1923=) rs200100160 0.00045
NM_015175.3(NBEAL2):c.3252C>T (p.Asp1084=) rs369409195 0.00012
NM_015175.3(NBEAL2):c.4211G>A (p.Arg1404His) rs202066156 0.00010
NM_015175.3(NBEAL2):c.6228C>T (p.Phe2076=) rs377441319 0.00010
NM_015175.3(NBEAL2):c.6178C>T (p.Arg2060Cys) rs547933637 0.00004
NM_015175.3(NBEAL2):c.7602+9C>T rs758985099 0.00003
NM_015175.3(NBEAL2):c.168G>A (p.Pro56=) rs188470343 0.00001
NM_015175.3(NBEAL2):c.5202C>T (p.His1734=) rs761277099 0.00001
NM_015175.3(NBEAL2):c.474-4C>T rs375726193
NM_015175.3(NBEAL2):c.5062C>T (p.Leu1688=) rs1213813201

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