ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease type 2 by Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen

Included ClinVar conditions (92):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001005373.4(LRSAM1):c.1694T>C (p.Leu565Pro) rs1836091590 0.00001
NM_007289.4(MME):c.1574A>C (p.Lys525Thr) rs1356844489 0.00001
NM_001005361.3(DNM2):c.1906G>C (p.Asp636His)
NM_001303256.3(MORC2):c.1208G>A (p.Gly403Glu) rs2147257051
NM_001365951.3(KIF1B):c.2115+6281A>G rs2102270489
NM_001376.5(DYNC1H1):c.3877G>C (p.Asp1293His) rs201107645
NM_001540.5(HSPB1):c.293C>G (p.Ser98Cys)
NM_001540.5(HSPB1):c.427A>T (p.Thr143Ser)
NM_004990.4(MARS1):c.1392dup (p.Leu465fs) rs2140033743
NM_014874.4(MFN2):c.824G>C (p.Arg275Pro)
NM_014874.4(MFN2):c.919A>G (p.Lys307Glu) rs1639171700
NM_021625.5(TRPV4):c.745C>G (p.Arg249Gly)

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