ClinVar Miner

List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease, type 2

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Total variants: 39
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HGVS dbSNP
NC_000001.10:g.(?_12052592)_(12057498_?)dup
NC_000001.10:g.(?_12057334)_(12059172_?)del
NC_000001.10:g.(?_156104174)_(156104339_?)del
NC_000001.10:g.(?_156104184)_(156104329_?)del
NC_000001.10:g.(?_156107425)_(156108917_?)del
NM_002047.4(GARS1):c.1705G>A (p.Glu569Lys) rs1060502839
NM_002047.4(GARS1):c.794C>T (p.Ser265Phe) rs1554337974
NM_002047.4(GARS1):c.880G>C (p.Gly294Arg) rs137852643
NM_005572.3(LMNA):c.639+1G>A rs869125101
NM_014874.3(MFN2):c.1071G>C (p.Lys357Asn) rs119103261
NM_014874.3(MFN2):c.1160+1G>A rs1553144086
NM_014874.3(MFN2):c.2171T>C (p.Leu724Pro) rs1557537346
NM_014874.3(MFN2):c.2220G>T (p.Trp740Cys) rs1060501925
NM_014874.3(MFN2):c.313A>G (p.Thr105Ala) rs1553142428
NM_014874.3(MFN2):c.475-2A>G rs1557522794
NM_014874.3(MFN2):c.638T>C (p.Ile213Thr) rs1557524703
NM_014874.3(MFN2):c.647T>C (p.Phe216Ser) rs387906990
NM_014874.3(MFN2):c.707C>T (p.Thr236Met) rs773159585
NM_014874.3(MFN2):c.720C>A (p.Phe240Leu) rs864622480
NM_014874.3(MFN2):c.752C>G (p.Pro251Arg) rs1557525153
NM_014874.3(MFN2):c.970+1G>T rs1553143890
NM_032667.6(BSCL2):c.269C>G (p.Ser90Trp) rs137852973
NM_170707.4(LMNA):c.1114G>A (p.Glu372Lys) rs1553265733
NM_170707.4(LMNA):c.1118T>G (p.Ile373Ser) rs1060502214
NM_170707.4(LMNA):c.1160T>C (p.Leu387Pro) rs879253934
NM_170707.4(LMNA):c.122G>T (p.Arg41Leu) rs1060502215
NM_170707.4(LMNA):c.134A>G (p.Tyr45Cys) rs58436778
NM_170707.4(LMNA):c.1380+2T>G rs1553265924
NM_170707.4(LMNA):c.143G>C (p.Arg48Pro)
NM_170707.4(LMNA):c.1621C>A (p.Arg541Ser) rs56984562
NM_170707.4(LMNA):c.184C>T (p.Arg62Cys)
NM_170707.4(LMNA):c.640-2A>G
NM_170707.4(LMNA):c.810+1G>A rs267607632
NM_170707.4(LMNA):c.811-1G>A
NM_170707.4(LMNA):c.83G>A (p.Arg28Gln) rs886043109
NM_170707.4(LMNA):c.857_859del (p.Gly286del)
NM_170707.4(LMNA):c.868G>A (p.Glu290Lys) rs397517912
NM_170707.4(LMNA):c.937-1G>A rs1553265606
NM_170707.4(LMNA):c.94A>G (p.Lys32Glu) rs1553261891

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