ClinVar Miner

List of variants in gene NEB reported as likely pathogenic for not provided

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Total variants: 15
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HGVS dbSNP
NM_001271208.2(NEB):c.11581G>T (p.Ala3861Ser) rs750748717
NM_001271208.2(NEB):c.1161C>G (p.Tyr387Ter) rs1259297878
NM_001271208.2(NEB):c.11825G>A (p.Trp3942Ter) rs1553887191
NM_001271208.2(NEB):c.12403_12404AG[1] (p.Arg4135fs) rs1553877885
NM_001271208.2(NEB):c.14323G>T (p.Glu4775Ter) rs1131691787
NM_001271208.2(NEB):c.16273C>T (p.Gln5425Ter) rs1064796311
NM_001271208.2(NEB):c.18891+1G>A rs1443738549
NM_001271208.2(NEB):c.20858del (p.Ile6953fs) rs1064794461
NM_001271208.2(NEB):c.2415+1G>A rs1057524581
NM_001271208.2(NEB):c.2415+1G>T rs1057524581
NM_001271208.2(NEB):c.294+2T>C rs773952935
NM_001271208.2(NEB):c.36+1G>T rs1553711195
NM_001271208.2(NEB):c.3858C>A (p.Cys1286Ter) rs1386238241
NM_001271208.2(NEB):c.3988-2_3988-1delinsTATA rs1553517142
NM_001271208.2(NEB):c.4720-2A>G rs1057518353

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