ClinVar Miner

List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease type 4

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Total variants: 18
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HGVS dbSNP
NC_000011.9:g.(?_9801955)_(10064538_?)del
NM_002972.4(SBF1):c.2154_2155del (p.Asp719fs) rs1569512576
NM_006096.3(NDRG1):c.326+1G>A
NM_014845.5(FIG4):c.498-2A>G rs1554300952
NM_016156.5(MTMR2):c.804+1G>C rs1565351898
NM_016156.5(MTMR2):c.804+2T>G rs1555061026
NM_016156.5(MTMR2):c.993+1G>A rs1555060614
NM_024577.3(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926
NM_024577.3(SH3TC2):c.279+1G>A rs1198337036
NM_024577.3(SH3TC2):c.280-2A>G rs1561770798
NM_024577.3(SH3TC2):c.3054-2A>C
NM_024577.3(SH3TC2):c.3328-1G>T rs1554120331
NM_024577.3(SH3TC2):c.385+2T>C rs773554464
NM_024577.3(SH3TC2):c.529+1G>A
NM_024577.3(SH3TC2):c.806-1G>A rs1554122560
NM_030962.3(SBF2):c.1297-2A>G
NM_030962.3(SBF2):c.1929+15398_2137del
NM_030962.3(SBF2):c.5037+1G>A rs1060499999

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