ClinVar Miner

List of variants in gene MTMR2 reported as pathogenic for Charcot-Marie-Tooth disease type 4

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Total variants: 7
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HGVS dbSNP
NM_016156.5(MTMR2):c.1034del (p.Asn345fs) rs863224516
NM_016156.5(MTMR2):c.1276C>T (p.Gln426Ter) rs121434402
NM_016156.5(MTMR2):c.1454_1457del (p.Asp485fs)
NM_016156.5(MTMR2):c.454_458del (p.Glu152fs)
NM_016156.5(MTMR2):c.832C>T (p.Gln278Ter) rs757563721
NM_201278.3(MTMR2):c.1319_1320TA[3] (p.Ser442fs) rs1555057316
NM_201278.3(MTMR2):c.244_245GT[2] (p.Val82_Cys83insTer) rs1358449243

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