ClinVar Miner

List of variants in gene NF2 reported as pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000268.4(NF2):c.1006dup (p.Arg336fs) rs1601643896
NM_000268.4(NF2):c.1021C>T (p.Arg341Ter) rs74315499
NM_000268.4(NF2):c.1056del (p.Arg353fs) rs1601644130
NM_000268.4(NF2):c.1122+1G>A rs1569304774
NM_000268.4(NF2):c.1228C>T (p.Gln410Ter) rs1556000842
NM_000268.4(NF2):c.122G>A (p.Trp41Ter) rs1555986860
NM_000268.4(NF2):c.1334_1337del (p.Glu445fs) rs1601649018
NM_000268.4(NF2):c.1346_1347del (p.Lys449fs) rs1556001351
NM_000268.4(NF2):c.1396C>T (p.Arg466Ter) rs74315504
NM_000268.4(NF2):c.169C>T (p.Arg57Ter) rs121434259
NM_000268.4(NF2):c.30del (p.Phe11fs) rs1601515836
NM_000268.4(NF2):c.41_42del (p.Leu14fs) rs1418675250
NM_000268.4(NF2):c.448-2A>G rs2146966211
NM_000268.4(NF2):c.461_479dup (p.Gly161fs) rs1569293373
NM_000268.4(NF2):c.517-1G>A rs1064796632
NM_000268.4(NF2):c.586C>T (p.Arg196Ter) rs1555993336
NM_000268.4(NF2):c.592C>T (p.Arg198Ter) rs1555993345
NM_000268.4(NF2):c.658A>T (p.Asn220Tyr) rs1601618646
NM_000268.4(NF2):c.663C>G (p.Tyr221Ter) rs2146990737
NM_000268.4(NF2):c.675+1G>C rs1555994854
NM_000268.4(NF2):c.738_756del (p.Glu247fs) rs1555996156
NM_000268.4(NF2):c.784C>T (p.Arg262Ter) rs74315496
NM_000268.4(NF2):c.810+1G>A rs794728682

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.