ClinVar Miner

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

Included ClinVar conditions (134):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 14
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NM_001005373.3(LRSAM1):c.2093_2104del (p.Gln698_Gln701del) rs1554763017
NM_138361.5(LRSAM1):c.1279C>T (p.Arg427Ter) rs138226428
NM_138361.5(LRSAM1):c.1694del (p.Leu565fs) rs749012928
NM_138361.5(LRSAM1):c.1913-1G>A rs756880678
NM_138361.5(LRSAM1):c.1914G>A (p.Glu638=) rs387907032
NM_138361.5(LRSAM1):c.1957dup (p.Gln653fs)
NM_138361.5(LRSAM1):c.2019dup (p.Glu674fs)
NM_138361.5(LRSAM1):c.2047-1G>A rs1564287793
NM_138361.5(LRSAM1):c.2081G>A (p.Cys694Tyr) rs886041051
NM_138361.5(LRSAM1):c.2104_2133dup (p.Pro702_Gln711dup) rs1564287871
NM_138361.5(LRSAM1):c.2121_2122dup (p.Leu708fs) rs786200930
NM_138361.5(LRSAM1):c.636C>G (p.Tyr212Ter) rs1345228128

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