ClinVar Miner

List of variants in gene MTMR2 reported as likely pathogenic for Charcot-Marie-Tooth disease

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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NM_016156.5(MTMR2):c.804+1G>C rs1565351898
NM_016156.5(MTMR2):c.804+2T>G rs1555061026
NM_016156.5(MTMR2):c.993+1G>A rs1555060614
NM_016156.6(MTMR2):c.463T>C (p.Cys155Arg)
NM_016156.6(MTMR2):c.766_767del (p.Lys256fs) rs769429967
NM_201278.3(MTMR2):c.1662_1663AG[6] (p.Ala557fs) rs751292488

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