ClinVar Miner

List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease type 2P by Invitae

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Total variants: 10
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HGVS dbSNP
NC_000009.11:g.(?_130241724_130244069del
NC_000009.12:g.(?_127502764)_(127502909_?)del
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.2102del (p.Gln701fs) rs1554763035
NM_138361.5(LRSAM1):c.847_1088+563del

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