ClinVar Miner

List of variants in gene NBEAL2 reported as benign

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Gene type:
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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_015175.3(NBEAL2):c.1197+115G>A rs936185 0.97385
NM_015175.3(NBEAL2):c.2473+53_2473+54insA rs11396344 0.94867
NM_015175.3(NBEAL2):c.556+154C>G rs4282092 0.94837
NM_015175.3(NBEAL2):c.5302-13A>T rs11928558 0.94785
NM_015175.3(NBEAL2):c.4305+267A>G rs34344887 0.55254
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.7135-104T>G rs56217494 0.34787
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.*179C>A rs111271184 0.06795
NM_015175.3(NBEAL2):c.1353G>A (p.Pro451=) rs115611407 0.06231
NM_015175.3(NBEAL2):c.*216A>G rs2305640 0.04972
NM_015175.3(NBEAL2):c.6919+9T>C rs3816531 0.04927
NM_015175.3(NBEAL2):c.6801+36G>A rs35201996 0.04502
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.4484+44G>A rs2305632 0.02875
NM_015175.3(NBEAL2):c.7335-44T>C rs74447560 0.02793
NM_015175.3(NBEAL2):c.4704C>T (p.Asn1568=) rs12489851 0.02789
NM_015175.3(NBEAL2):c.2445G>A (p.Ala815=) rs116456978 0.01945
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.7836G>A (p.Gln2612=) rs72909849 0.00728
NM_015175.3(NBEAL2):c.4170G>A (p.Ser1390=) rs139822454 0.00554
NM_015175.3(NBEAL2):c.3036C>T (p.Ser1012=) rs139218926 0.00414
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.123C>G (p.Ser41=) rs61734084 0.00344
NM_015175.3(NBEAL2):c.2356G>A (p.Ala786Thr) rs116104760 0.00338
NM_015175.3(NBEAL2):c.5103C>T (p.Phe1701=) rs199537643 0.00260
NM_015175.3(NBEAL2):c.2376G>A (p.Arg792=) rs200489667 0.00251
NM_015175.3(NBEAL2):c.8230G>C (p.Gly2744Arg) rs201641746 0.00197
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.6624C>T (p.Ser2208=) rs200186016 0.00143
NM_015175.3(NBEAL2):c.7755A>C (p.Gly2585=) rs186292946 0.00143
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.384C>G (p.Gly128=) rs113523265 0.00121
NM_015175.3(NBEAL2):c.7602+10G>A rs201513299 0.00118
NM_015175.3(NBEAL2):c.1752G>A (p.Thr584=) rs201359870 0.00081
NM_015175.3(NBEAL2):c.187C>T (p.Leu63=) rs80105480 0.00066
NM_015175.3(NBEAL2):c.467G>A (p.Arg156His) rs199797249 0.00065
NM_015175.3(NBEAL2):c.6378C>T (p.Ile2126=) rs187781607 0.00061
NM_015175.3(NBEAL2):c.1878C>A (p.Leu626=) rs199533501 0.00053
NM_015175.3(NBEAL2):c.860A>C (p.Asp287Ala) rs200666191 0.00030
NM_015175.3(NBEAL2):c.1351C>G (p.Pro451Ala) rs368375664 0.00024
NM_015175.3(NBEAL2):c.6212G>A (p.Arg2071His) rs200204458 0.00005
NM_015175.3(NBEAL2):c.2231C>T (p.Pro744Leu) rs375744996 0.00002
NM_015175.3(NBEAL2):c.*104del rs397708574
NM_015175.3(NBEAL2):c.1198-210T>G rs749511
NM_015175.3(NBEAL2):c.1531C>G (p.Arg511Gly) rs11720139
NM_015175.3(NBEAL2):c.6054C>G (p.Pro2018=) rs1079276
NM_015175.3(NBEAL2):c.6691+3_6691+6dup rs557640338
NM_015175.3(NBEAL2):c.6692-47dup rs5848810

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