ClinVar Miner

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

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_015175.3(NBEAL2):c.2356G>A (p.Ala786Thr) rs116104760 0.00338
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.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.5662C>G (p.Pro1888Ala) rs200641534 0.00019
NM_015175.3(NBEAL2):c.597G>A (p.Leu199=) rs199694703 0.00014
NM_015175.3(NBEAL2):c.2940C>T (p.Ile980=) rs748390322 0.00002

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