ClinVar Miner

List of variants in gene LRSAM1 reported as likely pathogenic for Charcot-Marie-Tooth disease

Included ClinVar conditions (137):
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Gene type:
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Total variants: 17
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HGVS dbSNP
NC_000009.11:g.(130264298_130265053)_(130265271_?)del
NC_000009.12:g.(?_127502764)_(127502909_?)del
NM_138361.5(LRSAM1):c.1016dup (p.Gln340fs)
NM_138361.5(LRSAM1):c.1043+1G>A
NM_138361.5(LRSAM1):c.1043+2T>G rs746455518
NM_138361.5(LRSAM1):c.1348-1G>A rs747659617
NM_138361.5(LRSAM1):c.1978_1979dup (p.Pro661fs)
NM_138361.5(LRSAM1):c.2003_2015del (p.Leu668fs) rs876661208
NM_138361.5(LRSAM1):c.2005G>T (p.Glu669Ter) rs1588143112
NM_138361.5(LRSAM1):c.2008del (p.Val670fs)
NM_138361.5(LRSAM1):c.2019dup (p.Glu674fs) rs1315010600
NM_138361.5(LRSAM1):c.2068T>C (p.Cys690Arg) rs879253755
NM_138361.5(LRSAM1):c.2102del (p.Gln701fs) rs1554763035
NM_138361.5(LRSAM1):c.2120C>T (p.Pro707Leu) rs797044913
NM_138361.5(LRSAM1):c.750+2T>G
NM_138361.5(LRSAM1):c.847_1088+563del
NM_138361.5(LRSAM1):c.904-2A>G

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