ClinVar Miner

List of variants in gene NEB reported as pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.3255+1G>A rs375628303 0.00006
NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter) rs769345284 0.00003
NM_001164508.2(NEB):c.11164C>T (p.Arg3722Ter) rs928945364 0.00001
NM_001164508.2(NEB):c.1152+1G>A rs398124167 0.00001
NM_001164508.2(NEB):c.17118+1G>A rs747946275 0.00001
NM_001164508.2(NEB):c.18676C>T (p.Gln6226Ter) rs1475648900 0.00001
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=) rs201553266 0.00001
NM_001164508.2(NEB):c.2784del (p.Asp929fs) rs786204430 0.00001
NM_001164508.2(NEB):c.2943+1G>A rs113091511 0.00001
NM_001164508.2(NEB):c.78+1G>A rs778593702 0.00001
NC_000002.11:g.(152501090_152502643)_(152502749_152506689)del
NM_001164508.2(NEB):c.11038C>T (p.Gln3680Ter)
NM_001164508.2(NEB):c.1152+1G>T rs398124167
NM_001164508.2(NEB):c.1623del (p.Asp542fs) rs772366030
NM_001164508.2(NEB):c.19097G>T (p.Ser6366Ile) rs191579691
NM_001164508.2(NEB):c.2415+1G>A rs1057524581
NM_001164508.2(NEB):c.3255+1G>T rs375628303
NM_001164508.2(NEB):c.3473_3488del (p.Asn1158fs) rs1463906422
NM_001164508.2(NEB):c.3987+1_3987+2delinsTG rs786204576
NM_001164508.2(NEB):c.8031_8041del (p.Lys2677fs) rs398124172

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