ClinVar Miner

List of variants in gene NBEAL2 reported as uncertain significance for not specified

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_015175.3(NBEAL2):c.4485-8C>T rs145760682 0.00350
NM_015175.3(NBEAL2):c.6866G>A (p.Arg2289Gln) rs181413143 0.00289
NM_015175.3(NBEAL2):c.5600C>T (p.Thr1867Ile) rs187699322 0.00172
NM_015175.3(NBEAL2):c.1634C>T (p.Ser545Leu) rs201749187 0.00151
NM_015175.3(NBEAL2):c.6352G>A (p.Val2118Ile) rs146270553 0.00056
NM_015175.3(NBEAL2):c.1482G>C (p.Leu494=) rs377485621 0.00043
NM_015175.3(NBEAL2):c.3387G>A (p.Ala1129=) rs371065166 0.00038
NM_015175.3(NBEAL2):c.6375C>T (p.Pro2125=) rs372864119 0.00020
NM_015175.3(NBEAL2):c.6880G>A (p.Glu2294Lys) rs201342229 0.00017
NM_015175.3(NBEAL2):c.1613G>A (p.Arg538His) rs368310677 0.00016
NM_015175.3(NBEAL2):c.5459+8G>A rs747932446 0.00014
NM_015175.3(NBEAL2):c.3769C>T (p.Arg1257Cys) rs746827784 0.00001
NM_015175.3(NBEAL2):c.6657C>A (p.Phe2219Leu) rs749279630 0.00001
NM_015175.3(NBEAL2):c.2044A>T (p.Ile682Phe) rs773164015
NM_015175.3(NBEAL2):c.2103C>T (p.Asp701=) rs377025153
NM_015175.3(NBEAL2):c.3584G>A (p.Arg1195Gln)
NM_015175.3(NBEAL2):c.3649G>T (p.Gly1217Trp)
NM_015175.3(NBEAL2):c.4949CAGCTGCAG[2] (p.Ala1656_Ala1658del) rs535036383
NM_015175.3(NBEAL2):c.7748G>A (p.Arg2583His) rs374312429

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