ClinVar Miner

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

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Total variants: 21
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HGVS dbSNP
NC_000001.10:g.(?_156104174)_(156104339_?)del
NC_000001.10:g.(?_156104184)_(156104329_?)del
NC_000001.10:g.(?_156107425)_(156108917_?)del
NM_005572.3(LMNA):c.639+1G>A rs869125101
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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