ClinVar Miner

List of variants in gene NBEAL2 studied for not specified

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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_015175.3(NBEAL2):c.5302-13A>T rs11928558 0.94785
NM_015175.3(NBEAL2):c.6560+31G>C rs2305638 0.55153
NM_015175.3(NBEAL2):c.4911C>T (p.Ser1637=) rs2305634 0.48105
NM_015175.3(NBEAL2):c.1033-28C>T rs13066214 0.48036
NM_015175.3(NBEAL2):c.4995G>A (p.Val1665=) rs2305635 0.34360
NM_015175.3(NBEAL2):c.1198-45C>T rs749512 0.32111
NM_015175.3(NBEAL2):c.6801+21A>C rs13081418 0.24157
NM_015175.3(NBEAL2):c.4783-24C>T rs73075647 0.17209
NM_015175.3(NBEAL2):c.6161C>T (p.Ser2054Phe) rs2305637 0.13655
NM_015175.3(NBEAL2):c.1353G>A (p.Pro451=) rs115611407 0.06231
NM_015175.3(NBEAL2):c.6919+9T>C rs3816531 0.04927
NM_015175.3(NBEAL2):c.1340G>A (p.Arg447His) rs17079425 0.03601
NM_015175.3(NBEAL2):c.7507+6A>G rs74418680 0.02879
NM_015175.3(NBEAL2):c.4704C>T (p.Asn1568=) rs12489851 0.02789
NM_015175.3(NBEAL2):c.5661A>C (p.Pro1887=) rs140548682 0.01370
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.5600C>T (p.Thr1867Ile) rs187699322 0.00172
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.3387G>A (p.Ala1129=) rs371065166 0.00038
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.1613G>A (p.Arg538His) rs368310677 0.00010
NM_015175.3(NBEAL2):c.6993G>A (p.Gly2331=) rs758526014 0.00004
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.6657C>A (p.Phe2219Leu) rs749279630 0.00001
NM_015175.3(NBEAL2):c.1531C>G (p.Arg511Gly) rs11720139
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.3544-20C>A rs1057523382
NM_015175.3(NBEAL2):c.3584G>A (p.Arg1195Gln)
NM_015175.3(NBEAL2):c.3649G>T (p.Gly1217Trp)
NM_015175.3(NBEAL2):c.4399C>T (p.Arg1467Trp)
NM_015175.3(NBEAL2):c.4949CAGCTGCAG[2] (p.Ala1656_Ala1658del) rs535036383
NM_015175.3(NBEAL2):c.4949CAGCTGCAG[5] (p.Ala1658_Glu1659insAlaAlaAlaAlaAlaAla)
NM_015175.3(NBEAL2):c.6054C>G (p.Pro2018=) rs1079276
NM_015175.3(NBEAL2):c.6692-47dup rs5848810
NM_015175.3(NBEAL2):c.7208G>T (p.Gly2403Val)
NM_015175.3(NBEAL2):c.7329C>T (p.Ser2443=) rs1426292577
NM_015175.3(NBEAL2):c.7748G>A (p.Arg2583His) rs374312429
NM_015175.3(NBEAL2):c.7779_7781dup (p.Leu2594_Gly2595insLeu)

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