ClinVar Miner

List of variants studied for Neurofibromatosis, type 2 by Mendelics

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Total variants: 36
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HGVS dbSNP
NM_000268.4(NF2):c.-142del rs1569259403
NM_000268.4(NF2):c.1013G>A (p.Arg338His) rs768053145
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.1340+8G>T rs370604189
NM_000268.4(NF2):c.1386C>T (p.Arg462=) rs138354622
NM_000268.4(NF2):c.1387G>A (p.Glu463Lys) rs74315503
NM_000268.4(NF2):c.1445C>T (p.Pro482Leu) rs766339217
NM_000268.4(NF2):c.1451T>C (p.Met484Thr) rs141538143
NM_000268.4(NF2):c.1540A>G (p.Met514Val) rs201527155
NM_000268.4(NF2):c.1575-67G>A rs140086
NM_000268.4(NF2):c.1699G>A (p.Asp567Asn) rs757586383
NM_000268.4(NF2):c.1724A>G (p.Asn575Ser) rs1569312127
NM_000268.4(NF2):c.1737+1432G>A rs746764835
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.599+40C>T rs1292869497
NM_000268.4(NF2):c.600-2A>G rs1601618501
NM_000268.4(NF2):c.610G>C (p.Glu204Gln) rs1569295916
NM_000268.4(NF2):c.613A>G (p.Met205Val) rs141629512
NM_000268.4(NF2):c.745_752del (p.Arg249fs) rs1601624078
NM_000268.4(NF2):c.810+2T>C rs1601624296
NM_000268.4(NF2):c.817A>G (p.Ile273Val) rs1368184325
NM_000268.4(NF2):c.933del (p.Ala313fs) rs1601636894
NM_000268.4(NF2):c.947T>G (p.Leu316Trp) rs750633919
NM_000268.4(NF2):c.999+15G>A rs367716680
NM_016418.5(NF2):c.886-15C>T rs200837904

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