ClinVar Miner

List of variants in gene ZEB2 reported as pathogenic by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_014795.4(ZEB2):c.1027C>T (p.Arg343Ter) rs786204815
NM_014795.4(ZEB2):c.1102C>T (p.Gln368Ter) rs886041338
NM_014795.4(ZEB2):c.1218del (p.His407fs) rs727504226
NM_014795.4(ZEB2):c.1381C>T (p.Gln461Ter) rs398124274
NM_014795.4(ZEB2):c.1426dup (p.Met476fs) rs587776604
NM_014795.4(ZEB2):c.1541dup (p.Val515fs) rs398124275
NM_014795.4(ZEB2):c.1586del (p.Thr529fs) rs398124276
NM_014795.4(ZEB2):c.1806C>G (p.Tyr602Ter) rs1553961660
NM_014795.4(ZEB2):c.1876G>T (p.Gly626Ter) rs727504224
NM_014795.4(ZEB2):c.2032del (p.Ser678fs) rs398124277
NM_014795.4(ZEB2):c.2083C>T (p.Arg695Ter) rs137852981
NM_014795.4(ZEB2):c.2174_2177dup (p.Leu728fs) rs398124278
NM_014795.4(ZEB2):c.2701C>T (p.Gln901Ter) rs794727924
NM_014795.4(ZEB2):c.2761C>T (p.Arg921Ter) rs587784566
NM_014795.4(ZEB2):c.280G>T (p.Glu94Ter) rs727504228
NM_014795.4(ZEB2):c.2986_2987del (p.Ser996fs) rs1553961343
NM_014795.4(ZEB2):c.304dup (p.Ile102fs) rs786200997
NM_014795.4(ZEB2):c.3359_3364delinsTAATG (p.Gly1120fs) rs398124280
NM_014795.4(ZEB2):c.3533del (p.Thr1178fs) rs727504223
NM_014795.4(ZEB2):c.643_659del (p.Tyr215fs) rs398124281
NM_014795.4(ZEB2):c.73+2T>C rs398124282
NM_014795.4(ZEB2):c.782_783del (p.Val261fs) rs398124283
NM_014795.4(ZEB2):c.789_790del (p.His263fs) rs1553962048
NM_014795.4(ZEB2):c.805C>T (p.Gln269Ter) rs398124284
NM_014795.4(ZEB2):c.930C>A (p.Tyr310Ter) rs6711223
NM_014795.4(ZEB2):c.980C>A (p.Ser327Ter) rs756686919

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