ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 2 by Undiagnosed Diseases Network, NIH

Included ClinVar conditions (103):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_007289.4(MME):c.202C>T (p.Arg68Ter) rs201692212 0.00001
NM_002180.3(IGHMBP2):c.1235+894C>A rs1202430946
NM_002180.3(IGHMBP2):c.1730T>C (p.Leu577Pro) rs1483165002

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