ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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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
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.1504-2A>G rs1064797013
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.2026_2027del (p.Val676fs) rs2132128455
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.2092C>T (p.Gln698Ter)
NM_001005373.4(LRSAM1):c.2102del (p.Gln701fs) rs1554763035
NM_001005373.4(LRSAM1):c.2119C>T (p.Pro707Ser) rs1588144707
NM_001005373.4(LRSAM1):c.2131C>T (p.Gln711Ter)
NM_001005373.4(LRSAM1):c.252+1G>A rs1554753670
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

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