ClinVar Miner

List of variants in gene NEB reported as pathogenic by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.3255+1G>A rs375628303 0.00006
NM_001164508.2(NEB):c.9619-2A>G rs375145370 0.00004
NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter) rs769345284 0.00003
NM_001164508.2(NEB):c.11627G>A (p.Trp3876Ter) rs776569219 0.00002
NM_001164508.2(NEB):c.9046C>T (p.Arg3016Ter) rs1057517977 0.00002
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.2784del (p.Asp929fs) rs786204430 0.00001
NM_001164508.2(NEB):c.3879+1G>A rs746999970 0.00001
NM_001164508.2(NEB):c.5574C>G (p.Tyr1858Ter) rs781185019 0.00001
NM_001164508.2(NEB):c.78+1G>A rs778593702 0.00001
NM_001164508.2(NEB):c.1152+1G>T rs398124167
NM_001164508.2(NEB):c.11806-1G>A rs886041851
NM_001164508.2(NEB):c.12160del (p.Trp4054fs) rs1319778592
NM_001164508.2(NEB):c.3255+1G>T rs375628303
NM_001164508.2(NEB):c.412C>T (p.Arg138Ter) rs1057517360
NM_001164508.2(NEB):c.6078del (p.Lys2026fs) rs1057516758
NM_001164508.2(NEB):c.9465del (p.Ile3156fs) rs1553939600

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