ClinVar Miner

List of variants in gene NEB reported as pathogenic by Counsyl

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Total variants: 14
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HGVS dbSNP
NM_001271208.1(NEB):c.7523_7526del rs878854368
NM_001271208.2(NEB):c.11164C>T (p.Arg3722Ter) rs928945364
NM_001271208.2(NEB):c.1152+1G>A rs398124167
NM_001271208.2(NEB):c.18676C>T (p.Gln6226Ter) rs1475648900
NM_001271208.2(NEB):c.18808C>T (p.Arg6270Ter) rs754369875
NM_001271208.2(NEB):c.19097G>T (p.Ser6366Ile) rs191579691
NM_001271208.2(NEB):c.20845dup (p.Thr6949fs) rs1553695209
NM_001271208.2(NEB):c.21076C>T (p.Arg7026Ter) rs769345284
NM_001271208.2(NEB):c.2943+1G>A rs113091511
NM_001271208.2(NEB):c.3255+1G>A rs375628303
NM_001271208.2(NEB):c.3255+1G>T rs375628303
NM_001271208.2(NEB):c.3987+1G>A rs780022652
NM_001271208.2(NEB):c.78+1G>A rs778593702
NM_001271208.2(NEB):c.9619-2A>G rs375145370

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