ClinVar Miner

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

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Gene type:
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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.11910+1G>A rs774495973 0.00003
NM_001164508.2(NEB):c.12018+1G>A rs762278237 0.00003
NM_001164508.2(NEB):c.19836+1G>A rs1446930968 0.00003
NM_001164508.2(NEB):c.11164C>T (p.Arg3722Ter) rs928945364 0.00001
NM_001164508.2(NEB):c.11719C>T (p.Gln3907Ter) rs377182240 0.00001
NM_001164508.2(NEB):c.13130_13131del (p.Met4377fs) rs1490309743 0.00001
NM_001164508.2(NEB):c.1470+1G>A rs1220787593 0.00001
NM_001164508.2(NEB):c.18891+1G>A rs1443738549 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.10560+1G>A rs1553915731
NM_001164508.2(NEB):c.1161C>G (p.Tyr387Ter) rs1259297878
NM_001164508.2(NEB):c.11825G>A (p.Trp3942Ter) rs1553887191
NM_001164508.2(NEB):c.12098del (p.Met4033fs)
NM_001164508.2(NEB):c.12300del (p.Ala4101fs)
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.16839dup (p.Lys5614Ter)
NM_001164508.2(NEB):c.17235dup (p.Glu5746fs) rs1578009926
NM_001164508.2(NEB):c.18024_18027del (p.Val6009fs) rs748358450
NM_001164508.2(NEB):c.2033del (p.Leu678fs)
NM_001164508.2(NEB):c.20858del (p.Ile6953fs) rs1064794461
NM_001164508.2(NEB):c.2211+5G>A rs797045736
NM_001164508.2(NEB):c.2415+1G>A rs1057524581
NM_001164508.2(NEB):c.2415+1G>T rs1057524581
NM_001164508.2(NEB):c.2772C>A (p.Tyr924Ter) rs1466946196
NM_001164508.2(NEB):c.36+1G>T rs1553711195
NM_001164508.2(NEB):c.3858C>A (p.Cys1286Ter) rs1386238241
NM_001164508.2(NEB):c.3880-2A>G rs1342507012
NM_001164508.2(NEB):c.3987+1G>A rs780022652
NM_001164508.2(NEB):c.3988-2_3988-1delinsTATA rs1553517142
NM_001164508.2(NEB):c.412C>T (p.Arg138Ter) rs1057517360
NM_001164508.2(NEB):c.4507-2A>G rs1575668113
NM_001164508.2(NEB):c.4720-2A>G rs1057518353
NM_001164508.2(NEB):c.5075del (p.Gly1692fs) rs2154177314
NM_001164508.2(NEB):c.520C>T (p.Gln174Ter) rs2150732849
NM_001164508.2(NEB):c.6075+3A>T rs986325764
NM_001164508.2(NEB):c.6594T>A (p.Tyr2198Ter)
NM_001164508.2(NEB):c.6667del (p.Val2223fs)
NM_001164508.2(NEB):c.6775C>T (p.Gln2259Ter) rs773605767
NM_001164508.2(NEB):c.7519_7520del (p.Leu2507fs)
NM_001164508.2(NEB):c.8425C>T (p.Arg2809Ter) rs762881892
NM_001164508.2(NEB):c.9102+1G>A rs143644938

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