ClinVar Miner

List of variants in gene NBEAL2 reported as benign by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 26
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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.4485-8C>T rs145760682 0.00350
NM_015175.3(NBEAL2):c.123C>G (p.Ser41=) rs61734084 0.00344
NM_015175.3(NBEAL2):c.8230G>C (p.Gly2744Arg) rs201641746 0.00197
NM_015175.3(NBEAL2):c.3338C>T (p.Thr1113Met) rs202071400 0.00133
NM_015175.3(NBEAL2):c.384C>G (p.Gly128=) rs113523265 0.00121
NM_015175.3(NBEAL2):c.187C>T (p.Leu63=) rs80105480 0.00066
NM_015175.3(NBEAL2):c.6378C>T (p.Ile2126=) rs187781607 0.00061
NM_015175.3(NBEAL2):c.860A>C (p.Asp287Ala) rs200666191 0.00030
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.6692-47dup rs5848810

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