ClinVar Miner

List of variants in gene NEXN reported as uncertain significance by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_144573.4(NEXN):c.613G>A (p.Glu205Lys) rs201447781 0.00034
NM_144573.4(NEXN):c.1788T>G (p.Ser596Arg) rs199738750 0.00029
NM_144573.4(NEXN):c.893C>G (p.Thr298Arg) rs200753280 0.00016
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys) rs137853197 0.00011
NM_144573.4(NEXN):c.1190G>A (p.Arg397Gln) rs201806320 0.00007
NM_144573.4(NEXN):c.1996A>G (p.Thr666Ala) rs374000722 0.00007
NM_144573.4(NEXN):c.586C>T (p.Arg196Cys) rs369486891 0.00007
NM_144573.4(NEXN):c.1453G>A (p.Glu485Lys) rs368812830 0.00006
NM_144573.4(NEXN):c.865-5G>A rs727505353 0.00005
NM_144573.4(NEXN):c.1174C>T (p.Arg392Ter) rs750076188 0.00004
NM_144573.4(NEXN):c.836G>A (p.Arg279His) rs750349053 0.00004
NM_144573.4(NEXN):c.1053+1G>A rs397517843 0.00003
NM_144573.4(NEXN):c.-10T>C rs727505219 0.00002
NM_144573.4(NEXN):c.1234A>G (p.Arg412Gly) rs768693715 0.00001
NM_144573.4(NEXN):c.1366G>A (p.Gly456Arg) rs397517844 0.00001
NM_144573.4(NEXN):c.1415C>G (p.Ala472Gly) rs539665448 0.00001
NM_144573.4(NEXN):c.1528A>G (p.Lys510Glu) rs727504758 0.00001
NM_144573.4(NEXN):c.1609_1610insA (p.Leu537fs) rs779350415 0.00001
NM_144573.4(NEXN):c.1981G>A (p.Gly661Arg) rs876657929 0.00001
NM_144573.3(NEXN):c.2026_*1del rs794729094
NM_144573.4(NEXN):c.1112C>T (p.Pro371Leu) rs200067011
NM_144573.4(NEXN):c.1181_1182del (p.Glu394fs) rs727504874
NM_144573.4(NEXN):c.1401AGA[2] (p.Glu470del) rs397517846
NM_144573.4(NEXN):c.1430T>G (p.Ile477Ser) rs727504658
NM_144573.4(NEXN):c.1457C>G (p.Ala486Gly) rs397517847
NM_144573.4(NEXN):c.1573GAA[3] (p.Glu528del) rs764505909
NM_144573.4(NEXN):c.1660-11_1660-7del rs727503344
NM_144573.4(NEXN):c.1671GGA[2] (p.Glu561_Glu562del) rs397517848
NM_144573.4(NEXN):c.1671GGA[5] (p.Glu562dup) rs397517848
NM_144573.4(NEXN):c.1753AAG[1] (p.Lys586del) rs397517851
NM_144573.4(NEXN):c.1820_1822del (p.Gly607del) rs876657928
NM_144573.4(NEXN):c.1937C>A (p.Pro646Gln) rs397517852
NM_144573.4(NEXN):c.1946GAG[1] (p.Gly650del) rs397517853
NM_144573.4(NEXN):c.2015A>G (p.Glu672Gly) rs876657930
NM_144573.4(NEXN):c.220A>C (p.Ile74Leu) rs727503342
NM_144573.4(NEXN):c.249G>C (p.Glu83Asp) rs372532824
NM_144573.4(NEXN):c.677del (p.Ser226fs) rs397517859
NM_144573.4(NEXN):c.864G>T (p.Met288Ile) rs371666396
NM_144573.4(NEXN):c.86G>T (p.Gly29Val) rs876657931
NM_144573.4(NEXN):c.989AAG[2] (p.Glu332del) rs727505124

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