ClinVar Miner

List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease axonal type 2P by MGZ Medical Genetics Center

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001005373.4(LRSAM1):c.1159+1G>A
NM_001005373.4(LRSAM1):c.1629del (p.Arg543fs)
NM_001005373.4(LRSAM1):c.2003_2015del (p.Leu668fs)	rs876661208

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