ClinVar Miner

List of variants in gene LOC111811965, MIR4733HG, NF1 studied for neurofibromatosis, familial spinal

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.-22G>C rs556823296 0.00381
NM_001042492.3(NF1):c.-249_-247dup rs886052786 0.00018
NM_001042492.3(NF1):c.-229C>G rs886052789 0.00017
NM_001042492.3(NF1):c.-237C>T rs878967255 0.00013
NM_001042492.3(NF1):c.-209C>A rs886052790 0.00002
NM_001042492.3(NF1):c.-251C>T rs1463146814 0.00002
NM_001042492.3(NF1):c.-51C>T rs964223360 0.00002
NM_001042492.3(NF1):c.-148C>A rs886052792 0.00001
NM_001042492.3(NF1):c.-73G>T rs886052795 0.00001
NM_001042492.3(NF1):c.-84C>T rs886052794 0.00001
NM_001042492.3(NF1):c.60+11C>T rs565515877 0.00001
NM_000267.3(NF1):c.-363T>C rs1911498673
NM_001042492.3(NF1):c.-115T>C rs886052793
NM_001042492.3(NF1):c.-166T>C rs1911526241
NM_001042492.3(NF1):c.-173C>G rs886052791
NM_001042492.3(NF1):c.-237dup rs886052788
NM_001042492.3(NF1):c.-242dup rs886052787
NM_001042492.3(NF1):c.-248_-247dup rs886052786
NM_001042492.3(NF1):c.-265G>C rs1911511473
NM_001042492.3(NF1):c.-322G>A rs886052785
NM_001042492.3(NF1):c.15G>T (p.Arg5Ser) rs1567786804
NM_001042492.3(NF1):c.17C>T (p.Pro6Leu) rs864622210
NM_001042492.3(NF1):c.55G>T (p.Glu19Ter) rs786203307

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