ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease axonal type 2T by Kariminejad - Najmabadi Pathology & Genetics Center

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_007289.4(MME):c.2242C>T (p.Arg748Trp) rs141665432 0.00010
NM_007289.4(MME):c.1066A>T (p.Lys356Ter) rs2473073611
NM_007289.4(MME):c.1818dup (p.Trp607fs)
NM_007289.4(MME):c.1861T>C (p.Cys621Arg) rs879253752
NM_007289.4(MME):c.1877A>G (p.Tyr626Cys)
NM_007289.4(MME):c.2081G>A (p.Trp694Ter)

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