ClinVar Miner

List of variants in gene NEXN reported as uncertain significance by CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario

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Total variants: 27
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HGVS dbSNP
NM_144573.3(NEXN):c.*6_*7delCT rs553696163
NM_144573.3(NEXN):c.1190G>A (p.Arg397Gln) rs201806320
NM_144573.3(NEXN):c.1430T>C (p.Ile477Thr)
NM_144573.3(NEXN):c.1489G>A (p.Val497Ile) rs778330292
NM_144573.3(NEXN):c.1550T>A (p.Phe517Tyr) rs1557996817
NM_144573.3(NEXN):c.1573_1575GAA[3] (p.Glu528del) rs764505909
NM_144573.3(NEXN):c.1582_1585delinsCAAA (p.Glu528_Gln529delinsGlnLys) rs1557996950
NM_144573.3(NEXN):c.1585C>A (p.Gln529Lys) rs766323670
NM_144573.3(NEXN):c.1642G>A (p.Asp548Asn) rs1404772841
NM_144573.3(NEXN):c.1653A>G (p.Leu551=) rs794727078
NM_144573.3(NEXN):c.166_169del (p.Arg56fs) rs765396527
NM_144573.3(NEXN):c.1671_1673GGA[2] (p.Glu561_Glu562del) rs397517848
NM_144573.3(NEXN):c.1770C>T (p.Asn590=) rs1557998187
NM_144573.3(NEXN):c.1788T>G (p.Ser596Arg) rs199738750
NM_144573.3(NEXN):c.1894G>C (p.Glu632Gln) rs370965740
NM_144573.3(NEXN):c.1922T>C (p.Leu641Ser) rs760119697
NM_144573.3(NEXN):c.1946_1948GAG[1] (p.Gly650del) rs397517853
NM_144573.3(NEXN):c.1981G>A (p.Gly661Arg) rs876657929
NM_144573.3(NEXN):c.257T>C (p.Val86Ala) rs1557974419
NM_144573.3(NEXN):c.512T>C (p.Ile171Thr) rs372065024
NM_144573.3(NEXN):c.535T>C (p.Tyr179His) rs1557981610
NM_144573.3(NEXN):c.586C>T (p.Arg196Cys) rs369486891
NM_144573.3(NEXN):c.60A>C (p.Lys20Asn) rs1557973780
NM_144573.3(NEXN):c.613G>A (p.Glu205Lys) rs201447781
NM_144573.3(NEXN):c.835C>T (p.Arg279Cys) rs146245480
NM_144573.3(NEXN):c.865-4T>C rs542794485
NM_144573.3(NEXN):c.989_991AAG[2] (p.Glu332del) rs727505124

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