ClinVar Miner

List of variants in gene NEB reported as pathogenic by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 11
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NM_001271208.2(NEB):c.11184del (p.Lys3728fs) rs1553901624
NM_001271208.2(NEB):c.1152+1G>A rs398124167
NM_001271208.2(NEB):c.12018+1G>A rs762278237
NM_001271208.2(NEB):c.12221dup (p.Thr4075fs) rs1553883480
NM_001271208.2(NEB):c.1570-2A>G rs1553603958
NM_001271208.2(NEB):c.17541dup (p.Tyr5848fs) rs886043631
NM_001271208.2(NEB):c.17557_17558del (p.Glu5853fs) rs886044005
NM_001271208.2(NEB):c.18862_18872del (p.Val6288fs) rs886042141
NM_001271208.2(NEB):c.294+2T>C rs773952935
NM_001271208.2(NEB):c.6385C>T (p.Gln2129Ter) rs80344795
NM_001271208.2(NEB):c.8031_8041del (p.Lys2677fs) rs398124172

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