ClinVar Miner

List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease axonal type 2P

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 48
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001005373.4(LRSAM1):c.1088+1G>C rs765641195 0.00014
NM_001005373.4(LRSAM1):c.1348-1G>A rs747659617 0.00009
NM_001005373.4(LRSAM1):c.517C>T (p.Arg173Ter) rs746159728 0.00002
NM_001005373.4(LRSAM1):c.1279C>T (p.Arg427Ter) rs138226428 0.00001
NC_000009.11:g.(130264298_130265053)_(130265271_?)del
NC_000009.11:g.(?_130241724)_(130244069_?)del
NC_000009.11:g.(?_130241728)_(130244069_?)del
NC_000009.11:g.(?_130248084)_(130254631_?)del
NC_000009.12:g.(?_127502764)_(127502909_?)del
NM_001005373.4(LRSAM1):c.1043+1G>A rs373571535
NM_001005373.4(LRSAM1):c.1043+1G>T
NM_001005373.4(LRSAM1):c.1043+2T>G rs746455518
NM_001005373.4(LRSAM1):c.1088+2T>G
NM_001005373.4(LRSAM1):c.1089-1G>C
NM_001005373.4(LRSAM1):c.1102C>T (p.Gln368Ter) rs776814240
NM_001005373.4(LRSAM1):c.1159+1G>A
NM_001005373.4(LRSAM1):c.1504-2A>G rs1064797013
NM_001005373.4(LRSAM1):c.1629del (p.Arg543fs)
NM_001005373.4(LRSAM1):c.1641C>G (p.Tyr547Ter) rs2132110332
NM_001005373.4(LRSAM1):c.175-2A>T rs1035054313
NM_001005373.4(LRSAM1):c.1978_1979dup (p.Pro661fs) rs1836370529
NM_001005373.4(LRSAM1):c.1996_2017del (p.Ala666fs)
NM_001005373.4(LRSAM1):c.2003_2015del (p.Leu668fs) rs876661208
NM_001005373.4(LRSAM1):c.2005G>T (p.Glu669Ter) rs1588143112
NM_001005373.4(LRSAM1):c.2008del (p.Val670fs) rs1836372698
NM_001005373.4(LRSAM1):c.2026_2027del (p.Val676fs) rs2132128455
NM_001005373.4(LRSAM1):c.2027_2033del (p.Val676fs)
NM_001005373.4(LRSAM1):c.2029del (p.Val677fs)
NM_001005373.4(LRSAM1):c.2033G>A (p.Cys678Tyr)
NM_001005373.4(LRSAM1):c.2033_2038del (p.Cys678_Glu680delinsTer)
NM_001005373.4(LRSAM1):c.2043_2044dup (p.Glu682fs) rs1554762671
NM_001005373.4(LRSAM1):c.2068T>C (p.Cys690Arg) rs879253755
NM_001005373.4(LRSAM1):c.2084G>A (p.Cys695Tyr) rs2132133868
NM_001005373.4(LRSAM1):c.2092C>T (p.Gln698Ter)
NM_001005373.4(LRSAM1):c.2101C>T (p.Gln701Ter)
NM_001005373.4(LRSAM1):c.2102del (p.Gln701fs) rs1554763035
NM_001005373.4(LRSAM1):c.2104_2133dup (p.Pro702_Gln711dup) rs1564287871
NM_001005373.4(LRSAM1):c.2119C>T (p.Pro707Ser) rs1588144707
NM_001005373.4(LRSAM1):c.2120C>T (p.Pro707Leu) rs797044913
NM_001005373.4(LRSAM1):c.2131C>T (p.Gln711Ter)
NM_001005373.4(LRSAM1):c.252+1G>A rs1554753670
NM_001005373.4(LRSAM1):c.322-2A>G
NM_001005373.4(LRSAM1):c.73-2A>T
NM_001005373.4(LRSAM1):c.849_1088+565del
NM_001005373.4(LRSAM1):c.903+1G>T rs1272943113
NM_001005373.4(LRSAM1):c.904-17_949del rs2132063794
NM_001005373.4(LRSAM1):c.904-2A>G rs1171946884
NM_001005373.4(LRSAM1):c.935_942del (p.Glu312fs) rs1835470775

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.