ClinVar Miner

List of variants in gene NBEAL2 reported by GeneDx

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Gene type:
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Total variants: 39
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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.1634C>T (p.Ser545Leu) rs201749187 0.00151
NM_015175.3(NBEAL2):c.3387G>A (p.Ala1129=) rs371065166 0.00038
NM_015175.3(NBEAL2):c.4211G>A (p.Arg1404His) rs202066156 0.00010
NM_015175.3(NBEAL2):c.4126A>G (p.Ser1376Gly) rs369363563 0.00009
NM_015175.3(NBEAL2):c.6806C>T (p.Ser2269Leu) rs749896920 0.00001
NM_015175.3(NBEAL2):c.1198-210T>G rs749511
NM_015175.3(NBEAL2):c.1370A>G (p.Gln457Arg)
NM_015175.3(NBEAL2):c.1531C>G (p.Arg511Gly) rs11720139
NM_015175.3(NBEAL2):c.2954G>A (p.Arg985Gln)
NM_015175.3(NBEAL2):c.3544-20C>A rs1057523382
NM_015175.3(NBEAL2):c.3592C>T (p.Gln1198Ter) rs886041677
NM_015175.3(NBEAL2):c.6054C>G (p.Pro2018=) rs1079276
NM_015175.3(NBEAL2):c.605T>G (p.Leu202Arg) rs1397926183
NM_015175.3(NBEAL2):c.7270C>T (p.Pro2424Ser)
NM_015175.3(NBEAL2):c.7559G>A (p.Gly2520Asp) rs2037574717

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