ClinVar Miner

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

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Total variants: 6
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NM_138361.5(LRSAM1):c.1016dup (p.Gln340fs)
NM_138361.5(LRSAM1):c.2008del (p.Val670fs)
NM_138361.5(LRSAM1):c.2019dup (p.Glu674fs) rs1315010600
NM_138361.5(LRSAM1):c.2120C>T (p.Pro707Leu) rs797044913

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