ClinVar Miner

List of variants reported as likely benign for Charcot-Marie-Tooth disease type 2E by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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NM_006158.4(NEFL):c.1006C>G (p.Leu336Val) rs551896980
NM_006158.4(NEFL):c.1402G>A (p.Asp468Asn) rs57153321
NM_006158.4(NEFL):c.1458C>T (p.Ala486=) rs61726486
NM_006158.4(NEFL):c.1560C>A (p.Thr520=) rs267607677
NM_006158.4(NEFL):c.207G>A (p.Glu69=) rs367732440
NM_006158.4(NEFL):c.321C>G (p.Arg107=) rs1198042093
NM_006158.4(NEFL):c.338_339delinsCC (p.Gln113Pro) rs1554497641
NM_006158.4(NEFL):c.352C>T (p.Leu118=) rs1254381816
NM_006158.4(NEFL):c.423G>A (p.Gln141=) rs59161567
NM_006158.4(NEFL):c.584C>T (p.Ala195Val) rs185200977
NM_006158.4(NEFL):c.621C>G (p.Ala207=) rs763294014
NM_006158.4(NEFL):c.639C>G (p.Ile213Met) rs62636522
NM_006158.4(NEFL):c.780C>T (p.Asp260=) rs878854817
NM_006158.4(NEFL):c.78_81delinsTTCT (p.Ile26_Ser27=) rs1060504999
NM_006158.4(NEFL):c.984G>T (p.Ala328=) rs759524661

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