ClinVar Miner

List of variants in gene NEB reported as likely pathogenic by GeneDx

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.12018+1G>A rs762278237 0.00003
NM_001164508.2(NEB):c.13130_13131del (p.Met4377fs) rs1490309743 0.00001
NM_001164508.2(NEB):c.294+2T>C rs773952935 0.00001
NM_001164508.2(NEB):c.3879+1G>A rs746999970 0.00001
NM_001164508.2(NEB):c.11825G>A (p.Trp3942Ter) rs1553887191
NM_001164508.2(NEB):c.12405_12406del (p.Arg4135fs) rs1553877885
NM_001164508.2(NEB):c.14323G>T (p.Glu4775Ter) rs1131691787
NM_001164508.2(NEB):c.16273C>T (p.Gln5425Ter) rs1064796311
NM_001164508.2(NEB):c.17235dup (p.Glu5746fs) rs1578009926
NM_001164508.2(NEB):c.20858del (p.Ile6953fs) rs1064794461
NM_001164508.2(NEB):c.2415+1G>A rs1057524581
NM_001164508.2(NEB):c.2415+1G>T rs1057524581
NM_001164508.2(NEB):c.36+1G>T rs1553711195
NM_001164508.2(NEB):c.3988-2_3988-1delinsTATA rs1553517142
NM_001164508.2(NEB):c.4720-2A>G rs1057518353
NM_001164508.2(NEB):c.520C>T (p.Gln174Ter) rs2150732849
NM_001164508.2(NEB):c.6075+3A>T rs986325764
NM_001164508.2(NEB):c.8425C>T (p.Arg2809Ter) rs762881892

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