ClinVar Miner

List of variants in gene NBEAL2 reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_015175.3(NBEAL2):c.1380G>A (p.Pro460=) rs114363730 0.00928
NM_015175.3(NBEAL2):c.6318C>T (p.Tyr2106=) rs141569354 0.00844
NM_015175.3(NBEAL2):c.4257G>A (p.Pro1419=) rs116791394 0.00742
NM_015175.3(NBEAL2):c.4170G>A (p.Ser1390=) rs139822454 0.00554
NM_015175.3(NBEAL2):c.2196G>A (p.Thr732=) rs201880318 0.00393
NM_015175.3(NBEAL2):c.4306-4A>G rs201229761 0.00393
NM_015175.3(NBEAL2):c.4485-8C>T rs145760682 0.00350
NM_015175.3(NBEAL2):c.2356G>A (p.Ala786Thr) rs116104760 0.00338
NM_015175.3(NBEAL2):c.6866G>A (p.Arg2289Gln) rs181413143 0.00289
NM_015175.3(NBEAL2):c.2376G>A (p.Arg792=) rs200489667 0.00251
NM_015175.3(NBEAL2):c.1038C>T (p.Tyr346=) rs201015016 0.00196
NM_015175.3(NBEAL2):c.7658G>A (p.Gly2553Glu) rs144664865 0.00166
NM_015175.3(NBEAL2):c.1634C>T (p.Ser545Leu) rs201749187 0.00151
NM_015175.3(NBEAL2):c.4185G>A (p.Pro1395=) rs115350407 0.00139
NM_015175.3(NBEAL2):c.3338C>T (p.Thr1113Met) rs202071400 0.00133
NM_015175.3(NBEAL2):c.1948G>A (p.Gly650Arg) rs201373710 0.00130
NM_015175.3(NBEAL2):c.6267C>G (p.Thr2089=) rs111945488 0.00097
NM_015175.3(NBEAL2):c.467G>A (p.Arg156His) rs199797249 0.00065
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.6375C>T (p.Pro2125=) rs372864119 0.00020
NM_015175.3(NBEAL2):c.5662C>G (p.Pro1888Ala) rs200641534 0.00019
NM_015175.3(NBEAL2):c.6880G>A (p.Glu2294Lys) rs201342229 0.00017
NM_015175.3(NBEAL2):c.5459+8G>A rs747932446 0.00014
NM_015175.3(NBEAL2):c.597G>A (p.Leu199=) rs199694703 0.00014
NM_015175.3(NBEAL2):c.2940C>T (p.Ile980=) rs748390322 0.00002
NM_015175.3(NBEAL2):c.3769C>T (p.Arg1257Cys) rs746827784 0.00001
NM_015175.3(NBEAL2):c.1793G>A (p.Trp598Ter) rs1553659758
NM_015175.3(NBEAL2):c.2103C>T (p.Asp701=) rs377025153
NM_015175.3(NBEAL2):c.4081G>T (p.Glu1361Ter) rs1553663498
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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