ClinVar Miner

List of variants reported as pathogenic for Charcot-Marie-Tooth disease by Baylor Genetics

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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GRCh37/hg19 17p12(chr17:14063251-15449627)
GRCh37/hg19 17p12(chr17:14101029-15449627)
GRCh37/hg19 17p12(chr17:14104012-15422557)
GRCh37/hg19 17p12(chr17:14104012-15551814)
GRCh37/hg19 17p12(chr17:14105874-15611546)
GRCh37/hg19 17p12(chr17:14110451-15449097)
GRCh37/hg19 17p12(chr17:14128550-15422557)
GRCh37/hg19 1q23.3(chr1:161255241-161276497)
GRCh37/hg19 2q13(chr2:110824957-110983703)
NM_001039550.2(DNAJB2):c.343G>T (p.Glu115Ter) rs797045039
NM_002047.4(GARS1):c.1904C>T (p.Ser635Leu) rs201358272
NM_006329.3(FBLN5):c.1201_1202del (p.Ser401fs) rs1595286986
NM_014874.3(MFN2):c.310C>T (p.Arg104Trp) rs119103268
NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter) rs118203963
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter) rs104894714

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