ClinVar Miner

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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP
NM_138361.5(LRSAM1):c.1815del (p.Asp607fs)	rs0
NM_138361.5(LRSAM1):c.1913-1G>A	rs756880678
NM_138361.5(LRSAM1):c.2121_2122dup (p.Leu708fs)	rs786200930

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