ClinVar Miner

List of variants reported as pathogenic for Charcot-Marie-Tooth disease dominant intermediate E by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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INF2, 9-BP DEL, NT490
NM_022489.4(INF2):c.310T>C (p.Cys104Arg) rs387907034
NM_022489.4(INF2):c.311G>T (p.Cys104Phe) rs387907035
NM_022489.4(INF2):c.312C>G (p.Cys104Trp) rs387907036
NM_022489.4(INF2):c.383T>C (p.Leu128Pro) rs387907037
NM_022489.4(INF2):c.395T>G (p.Leu132Arg) rs387907038

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