ClinVar Miner

List of variants in gene LRSAM1 reported as likely pathogenic for Charcot-Marie-Tooth disease type 2

Included ClinVar conditions (60):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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NM_138361.5(LRSAM1):c.1043+2T>G rs746455518
NM_138361.5(LRSAM1):c.2003_2015del (p.Leu668fs) rs876661208
NM_138361.5(LRSAM1):c.2068T>C (p.Cys690Arg) rs879253755
NM_138361.5(LRSAM1):c.2080T>C (p.Cys694Arg) rs759312530
NM_138361.5(LRSAM1):c.2102del (p.Gln701fs) rs1554763035

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