ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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NM_000304.4(PMP22):c.281dup (p.Arg95fs) rs80338763
NM_006158.4(NEFL):c.1001A>C (p.Gln334Pro) rs281865140
NM_006158.4(NEFL):c.1117C>T (p.Gln373Ter) rs757417962
NM_006158.4(NEFL):c.1186G>A (p.Glu396Lys) rs62636503
NM_006158.4(NEFL):c.1261C>T (p.Arg421Ter) rs191346286
NM_006158.4(NEFL):c.1319C>T (p.Pro440Leu) rs587777882
NM_006158.4(NEFL):c.22_23delCCinsAG (p.Pro8Arg) rs60261494
NM_006158.4(NEFL):c.23C>G (p.Pro8Arg) rs61491953
NM_006158.4(NEFL):c.23C>T (p.Pro8Leu) rs61491953
NM_006158.4(NEFL):c.281T>C (p.Leu94Pro) rs62636505
NM_006158.4(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006158.4(NEFL):c.487G>T (p.Glu163Ter) rs876661155
NM_006158.4(NEFL):c.48_60dup (p.Thr21fs) rs58640772
NM_006158.4(NEFL):c.803T>C (p.Leu268Pro) rs62636502
NM_006158.4(NEFL):c.995A>C (p.Gln332Pro) rs59443585
NM_006158.5(NEFL):c.32C>A (p.Ser11Ter)
NM_006158.5(NEFL):c.64C>T (p.Pro22Ser) rs28928910

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