ClinVar Miner

List of variants in gene NF2 reported by Mendelics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000268.4(NF2):c.1575-67G>A rs140086 0.99995
NM_000268.4(NF2):c.1386C>T (p.Arg462=) rs138354622 0.00086
NM_000268.4(NF2):c.1451T>C (p.Met484Thr) rs141538143 0.00082
NM_000268.4(NF2):c.599+40C>T rs1292869497 0.00079
NM_000268.4(NF2):c.1387G>A (p.Glu463Lys) rs74315503 0.00044
NM_000268.4(NF2):c.886-15C>T rs200837904 0.00030
NM_000268.4(NF2):c.1340+8G>T rs370604189 0.00029
NM_000268.4(NF2):c.613A>G (p.Met205Val) rs141629512 0.00016
NM_000268.4(NF2):c.999+15G>A rs367716680 0.00011
NM_000268.4(NF2):c.1737+1432G>A rs746764835 0.00010
NM_000268.4(NF2):c.1540A>G (p.Met514Val) rs201527155 0.00009
NM_000268.4(NF2):c.947T>G (p.Leu316Trp) rs750633919 0.00005
NM_000268.4(NF2):c.1013G>A (p.Arg338His) rs768053145 0.00002
NM_000268.4(NF2):c.1699G>A (p.Asp567Asn) rs757586383 0.00002
NM_000268.4(NF2):c.1445C>T (p.Pro482Leu) rs766339217 0.00001
NM_000268.4(NF2):c.952G>A (p.Val318Ile) rs996057882 0.00001
NM_000268.4(NF2):c.1059G>C (p.Arg353Ser) rs1379674036
NM_000268.4(NF2):c.1060del (p.Asp354fs) rs1601644146
NM_000268.4(NF2):c.1113C>G (p.Asn371Lys) rs142459414
NM_000268.4(NF2):c.1229del (p.Gln410fs) rs1601648452
NM_000268.4(NF2):c.1340+2T>G rs1601649049
NM_000268.4(NF2):c.1724A>G (p.Asn575Ser) rs1569312127
NM_000268.4(NF2):c.179_185del (p.Trp60fs) rs1601579095
NM_000268.4(NF2):c.215T>C (p.Val72Ala) rs1260510937
NM_000268.4(NF2):c.223_240+8del rs1601579295
NM_000268.4(NF2):c.349T>G (p.Leu117Val) rs1569281810
NM_000268.4(NF2):c.363+9G>T rs1601583861
NM_000268.4(NF2):c.401C>T (p.Pro134Leu) rs1029716358
NM_000268.4(NF2):c.493C>T (p.Gln165Ter) rs1601611973
NM_000268.4(NF2):c.586C>T (p.Arg196Ter) rs1555993336
NM_000268.4(NF2):c.600-2A>G rs1601618501
NM_000268.4(NF2):c.610G>C (p.Glu204Gln) rs1569295916
NM_000268.4(NF2):c.745_752del (p.Arg249fs) rs1601624078
NM_000268.4(NF2):c.810+1G>A rs794728682
NM_000268.4(NF2):c.810+2T>C rs1601624296
NM_000268.4(NF2):c.817A>G (p.Ile273Val) rs1368184325
NM_000268.4(NF2):c.876del (p.Asn293fs) rs2147033768
NM_000268.4(NF2):c.933del (p.Ala313fs) rs1601636894

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.